All individuals with variants in gene PRMT7

55 entries on 1 page. Showing entries 1 - 55.
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00295739 - - - F - - - - - - - ? Visual impairment (HP:0000505); Short stature (HP:0004322); Global developmental delay (HP:0001263); Abnormality of the face (HP:0000271) 2 1 Andreas Laner
00306249 - - - F - - - - - - - ? Global developmental delay (HP:0001263); Muscular hypotonia (HP:0001252); Nystagmus (HP:0000639); Short stature (HP:0004322) 1 1 IMGAG
00307964 16DG0201 PubMed: Anazi 2017 familial F - - - - - - - ID see paper; ..., Intellectual disability, Hypotonia, Microcephaly; Brachydactyly 1 1 Johan den Dunnen
00391873 104P - - F no Spain - - - - - ID - 2 1 Alejandro Brea-Fernández
00428418 Fam1Pat1 PubMed: Cali 2022 family, 2 affected, unaffected heterozygous carrier parents M yes Iran Persia - - - - NDD no intra-uterine growth retardation (-HP:0001511); not small for gestational age (-HP:0001518); normal length at birth; no feeding difficulties (-HP:0008872); no failure to thrive (-HP:0001508); short stature (HP:0004322); no overweight (-HP:0025502); no microcephaly birth (-HP:0011451); no microcephaly (-HP:0000252); abnormal skull morphology (HP:0000929); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); abnormality neck (HP:0000464); abnormality hand (HP:0001155); abnormal foot morphology (HP:0001760); global developmental delay (HP:0001263); severe intellectual disability (HP:0001249); seizure (HP:0001250); no hypotonia (-HP:0001252); abnormal brain morphology (HP:0012443), slightly enlarged lateral ventricles; no abnormality eye (-HP:0000478); no hearing impairment (-HP:0000365); no abnormality endocrine system (-HP:0000818); no abnormality genitourinary system (-HP:0000119); no abnormality respiratory system (-HP:0002086); dolichocephaly (HP:0000268); face, coarse (HP:0000280); supraorbital ridges, prominent (HP:0000336); midface hypoplasia malar flattening (HP:0011800 HP:0000272); prognathism (HP:0000303); chin, broad (HP:0011822); chin, tall (HP:0400000); eyes, widely spaced (HP:0000316); eyebrow, highly arched (HP:0002553); ala nasi, flared (HP:0000454); columella, low hanging (HP:0009765); nose, prominent (HP:0000448); philtrum, short (HP:0000322); vermilion, upper lip, thin (HP:0000219); mouth, wide (HP:0000154); finger, radial deviation of (HP:0009466); finger, short (HP:0009381); metatarsal, short (HP:0010743); thumb, broad (HP:0011304); toes, overlapping (HP:0001845); 1 2 Johan den Dunnen
00428419 Fam1Pat2 PubMed: Cali 2022 - F yes Iran Persia - - - - NDD no intra-uterine growth retardation (-HP:0001511); not small for gestational age (-HP:0001518); normal length at birth; no feeding difficulties (-HP:0008872); no failure to thrive (-HP:0001508); short stature (HP:0004322); no overweight (-HP:0025502); no microcephaly birth (-HP:0011451); no microcephaly (-HP:0000252); abnormal skull morphology (HP:0000929); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); abnormality neck (HP:0000464); abnormality hand (HP:0001155); abnormal foot morphology (HP:0001760); global developmental delay (HP:0001263); severe intellectual disability (HP:0001249); seizure (HP:0001250); no hypotonia (-HP:0001252); abnormal brain morphology (HP:0012443), slightly enlarged lateral ventricles; no abnormality eye (-HP:0000478); no hearing impairment (-HP:0000365); no abnormality endocrine system (-HP:0000818); no abnormality genitourinary system (-HP:0000119); no abnormality respiratory system (-HP:0002086); dolichocephaly (HP:0000268); face, coarse (HP:0000280); supraorbital ridges, prominent (HP:0000336); prognathism (HP:0000303); chin, broad (HP:0011822); chin, tall (HP:0400000); eyebrow, highly arched (HP:0002553); eyebrow, thick (HP:0000574); proptosis (HP:0000520); synophrys (HP:0000664); ala nasi, flared (HP:0000454); columella, low hanging (HP:0009765); nose, prominent (HP:0000448); philtrum, short (HP:0000322); vemilion, upper lip, tented (HP:0010804); vermilion, upper lip, thick (HP:0000215); mouth, wide (HP:0000154); finger, short (HP:0009381); finger, tapered (HP:0001182); metatarsal, short (HP:0010743); toes, overlapping (HP:0001845); 1 1 Johan den Dunnen
00428420 Fam2Pat3 PubMed: Cali 2022 - F no Bangladesh - - - - - NDD no intra-uterine growth retardation (-HP:0001511); small for gestational age (HP:0001518); feeding difficulties (HP:0008872); failure to thrive (HP:0001508); no short stature (-HP:0004322); obesity (HP:0001513); microcephaly (HP:0000252); abnormal skull morphology (HP:0000929); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); abnormality hand (HP:0001155); global developmental delay (HP:0001263); moderate intellectual disability (HP:0001249); seizure (HP:0001250); hypotonia (HP:0001252); abnormal brain morphology (HP:0012443), possible ischemic damage of head of caudate nucleus; no abnormality eye (-HP:0000478); brachycephaly (HP:0000248); supraorbital ridges, prominent (HP:0000336); midface hypoplasia malar flattening (HP:0011800 HP:0000272); prognathism (HP:0000303); chin, broad (HP:0011822); chin, tall (HP:0400000); eyebrow, interrupted; palpebral fissure, upslanted (HP:0000582); palpebral fissure, short (HP:0012745); nose, short (HP:0003196); vermilion, lower lip, everted (HP:0000232); vermilion, lower lip, thick (HP:0000179); vemilion, upper lip, tented (HP:0010804); vermilion, upper lip, thick (HP:0000215); central incisor, prominent (HP:0000675); finger, short (HP:0009381); finger, tapered (HP:0001182); thumb, broad (HP:0011304); 1 1 Johan den Dunnen
00428421 Fam3Pat4 PubMed: Cali 2022 - F yes Sudan Arab - - - - NDD no intra-uterine growth retardation (-HP:0001511); not small for gestational age (-HP:0001518); feeding difficulties (HP:0008872); no failure to thrive (-HP:0001508); no short stature (-HP:0004322); no overweight (-HP:0025502); no microcephaly (-HP:0000252); normal skull morphology (-HP:0000929); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); abnormality neck (HP:0000464); abnormality hand (HP:0001155); global developmental delay (HP:0001263); severe intellectual disability (HP:0001249); seizure (HP:0001250); hypotonia (HP:0001252); abnormal brain morphology (HP:0012443), mild dilation of left temporal cistern; no hearing impairment (-HP:0000365); abnormality respiratory system (HP:0002086); hairline, high anterior (HP:0009890); forehead, high (HP:0000348); supraorbital ridges, prominent (HP:0000336); prognathism (HP:0000303); chin, broad (HP:0011822); chin, tall (HP:0400000); epicanthus (HP:0000286); palpebral fissure, upslanted (HP:0000582); columella, short (HP:0002000); anteverted nares (HP:0000463); nasal bridge, depressed (HP:0005280); nose, short (HP:0003196); vermilion, lower lip, thick (HP:0000179); central incisor, prominent (HP:0000675); 1 1 Johan den Dunnen
00428422 Fam4Pat5 PubMed: Cali 2022 - M no - Hispanic - - - - NDD no intra-uterine growth retardation (-HP:0001511); small for gestational age (HP:0001518); feeding difficulties (HP:0008872); short stature (HP:0004322); no overweight (-HP:0025502); microcephaly (HP:0000252); normal skull morphology (-HP:0000929); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); abnormality neck (HP:0000464); abnormality hand (HP:0001155); abnormal foot morphology (HP:0001760); global developmental delay (HP:0001263); severe intellectual disability (HP:0001249); seizure (HP:0001250); abnormal brain morphology (HP:0012443), cavum septum pellucidum, FLAIR hyperintensity within convexity sulci (maybe due to anesthesia); no abnormality eye (-HP:0000478); abnormality endocrine system (HP:0000818); microcephaly (HP:0000252); hairline, high anterior (HP:0009890); forehead, high (HP:0000348); forehead, narrow (HP:0000341); supraorbital ridges, prominent (HP:0000336); midface hypoplasia malar flattening (HP:0011800 HP:0000272); prognathism (HP:0000303); chin, broad (HP:0011822); chin, tall (HP:0400000); eyes, widely spaced (HP:0000316); deeply set eyes (HP:0000490); palpebral fissure, short (HP:0012745); nasal bridge, wide (HP:0000431); nasal tip, broad (HP:0000455); philtrum, short (HP:0000322); vermilion, lower lip, everted (HP:0000232); vermilion, lower lip, thick (HP:0000179); vemilion, upper lip, tented (HP:0010804); vermilion, upper lip, thick (HP:0000215); camptodactyly of finger (HP:0100490); finger, short (HP:0009381); hallux, valgus (HP:0001822); metatarsal, short (HP:0010743); thumb, broad (HP:0011304); toes, overlapping (HP:0001845); 2 1 Johan den Dunnen
00428423 Fam5Pat6 PubMed: Cali 2022 family, 2 affected F - Switzerland - - - - - NDD no intra-uterine growth retardation (-HP:0001511); not small for gestational age (-HP:0001518); short length at birth; no feeding difficulties (-HP:0008872); failure to thrive (HP:0001508); short stature (HP:0004322); obesity (HP:0001513); no microcephaly birth (-HP:0011451); no microcephaly (-HP:0000252); abnormal skull morphology (HP:0000929); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); abnormality neck (HP:0000464); abnormality hand (HP:0001155); abnormal foot morphology (HP:0001760); global developmental delay (HP:0001263); moderate intellectual disability (HP:0001249); seizure (HP:0001250); hypotonia (HP:0001252); abnormal brain morphology (HP:0012443), enlarged ventricles, asymmetry of occipital lobes; abnormality eye (HP:0000478); hearing impairment (HP:0000365); no abnormality endocrine system (-HP:0000818); abnormality genitourinary system (HP:0000119); no abnormality respiratory system (-HP:0002086); brachycephaly (HP:0000248); frontal bossing (HP:0002007); supraorbital ridges, prominent (HP:0000336); midface hypoplasia malar flattening (HP:0011800 HP:0000272); prognathism (HP:0000303); chin, tall (HP:0400000); eyes, widely spaced (HP:0000316); deeply set eyes (HP:0000490); eyebrow, low-set; eyebrow, horizontal (HP:0011228); eyebrow, sparse (HP:0045075); palpebral fissure, upslanted (HP:0000582); palpebral fissure, short (HP:0012745); naris, narrow (HP:0009933); naris, notched (HP:0003191); anteverted nares (HP:0000463); nasal bridge, depressed (HP:0005280); nasal tip, broad (HP:0000455); nose, prominent (HP:0000448); nose, short (HP:0003196); philtrum, short (HP:0000322); philtrum, deep (HP:0002002); vermilion, lower lip, everted (HP:0000232); vermilion, lower lip, thick (HP:0000179); vemilion, upper lip, tented (HP:0010804); mouth, narrow (HP:0000160); high palate (HP:0000218); clinodactyly (HP:0030084); finger, short (HP:0009381); metatarsal, short (HP:0010743); thumb, broad (HP:0011304); thumb, short (HP:0009778); toe, short (HP:0001831); nail, narrow (HP:0011313); 2 2 Johan den Dunnen
00428424 Fam5Pat7 PubMed: Cali 2022 - M - Switzerland - - - - - NDD not small for gestational age (-HP:0001518); normal length at birth; no feeding difficulties (-HP:0008872); failure to thrive (HP:0001508); short stature (HP:0004322); no overweight (-HP:0025502); no microcephaly birth (-HP:0011451); no microcephaly (-HP:0000252); normal skull morphology (-HP:0000929); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); abnormality neck (HP:0000464); abnormality hand (HP:0001155); abnormal foot morphology (HP:0001760); global developmental delay (HP:0001263); moderate intellectual disability (HP:0001249); no seizure (-HP:0001250); hypotonia (HP:0001252); abnormality eye (HP:0000478); hearing impairment (HP:0000365); no abnormality endocrine system (-HP:0000818); no abnormality respiratory system (-HP:0002086); supraorbital ridges, prominent (HP:0000336); micrognathia (HP:0000347); chin, broad (HP:0011822); eyes, widely spaced (HP:0000316); deeply set eyes (HP:0000490); eyebrow, sparse (HP:0045075); palpebral fissure, upslanted (HP:0000582); palpebral fissure, short (HP:0012745); columella, low hanging (HP:0009765); anteverted nares (HP:0000463); nasal bridge, wide (HP:0000431); nose, prominent (HP:0000448); nose, short (HP:0003196); philtrum, short (HP:0000322); vermilion, upper lip, thin (HP:0000219); high palate (HP:0000218); clinodactyly (HP:0030084); finger, short (HP:0009381); metatarsal, short (HP:0010743); toe, short (HP:0001831); 2 1 Johan den Dunnen
00428425 Fam6Pat8 PubMed: Cali 2022 - F yes - Latina - - - - NDD small for gestational age (HP:0001518); short length at birth; no feeding difficulties (-HP:0008872); no failure to thrive (-HP:0001508); short stature (HP:0004322); obesity (HP:0001513); no microcephaly (-HP:0000252); normal skull morphology (-HP:0000929); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); abnormality neck (HP:0000464); abnormality hand (HP:0001155); abnormal foot morphology (HP:0001760); global developmental delay (HP:0001263); no seizure (-HP:0001250); hypotonia (HP:0001252); normal brain morphology (HP:0012443); abnormality eye (HP:0000478); no hearing impairment (-HP:0000365); no abnormality endocrine system (-HP:0000818); abnormality genitourinary system (HP:0000119); no abnormality respiratory system (-HP:0002086); frontal bossing (HP:0002007); supraorbital ridges, prominent (HP:0000336); midface hypoplasia malar flattening (HP:0011800 HP:0000272); prognathism (HP:0000303); chin, tall (HP:0400000); epicanthus (HP:0000286); eyebrow, low-set; eyebrow, horizontal (HP:0011228); eyebrow, sparse (HP:0045075); palpebral fissure, upslanted (HP:0000582); palpebral fissure, short (HP:0012745); nasal tip, broad (HP:0000455); nose, short (HP:0003196); philtrum, short (HP:0000322); vermilion, upper lip, thin (HP:0000219); mouth, downturned corners of (HP:0002714); finger, short (HP:0009381); thumb, broad (HP:0011304); nail, short (HP:0001799) 1 1 Johan den Dunnen
00428426 Fam7Pat9 PubMed: Cali 2022 - M yes France;Italy - - - - - NDD not small for gestational age (-HP:0001518); normal length at birth; short stature (HP:0004322); obesity (HP:0001513); microcephaly birth (HP:0011451); no microcephaly (-HP:0000252); normal skull morphology (-HP:0000929); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); no abnormal oral morphology (-HP:0031816); abnormality neck (HP:0000464); abnormality hand (HP:0001155); global developmental delay (HP:0001263); no seizure (-HP:0001250); hypotonia (HP:0001252); normal brain morphology (HP:0012443); no abnormality eye (-HP:0000478); no hearing impairment (-HP:0000365); abnormality respiratory system (HP:0002086); microcephaly (HP:0000252); face, coarse (HP:0000280); forehead, narrow (HP:0000341); midface hypoplasia malar flattening (HP:0011800 HP:0000272); prognathism (HP:0000303); chin, broad (HP:0011822); chin, tall (HP:0400000); eyes, widely spaced (HP:0000316); eyebrow, low-set; eyebrow, horizontal (HP:0011228); eyebrow, sparse (HP:0045075); columella, short (HP:0002000); nasal bridge, depressed (HP:0005280); nasal tip, broad (HP:0000455); nose, short (HP:0003196); philtrum, long (HP:0000343); finger, short (HP:0009381); 1 1 Johan den Dunnen
00428427 Fam8Pat10 PubMed: Cali 2022 - F no - white - - - - NDD no intra-uterine growth retardation (-HP:0001511); small for gestational age (HP:0001518); short length at birth; feeding difficulties (HP:0008872); failure to thrive (HP:0001508); short stature (HP:0004322); no overweight (-HP:0025502); microcephaly birth (HP:0011451); microcephaly (HP:0000252); normal skull morphology (-HP:0000929); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); abnormality neck (HP:0000464); abnormality hand (HP:0001155); abnormal foot morphology (HP:0001760); global developmental delay (HP:0001263); moderate intellectual disability (HP:0001249); no seizure (-HP:0001250); hypotonia (HP:0001252); abnormal brain morphology (HP:0012443), mild prominence of lateral and third ventricles, mild decrease in cerebral volume; abnormality eye (HP:0000478); hearing impairment (HP:0000365); no abnormality endocrine system (-HP:0000818); no abnormality genitourinary system (-HP:0000119); no abnormality respiratory system (-HP:0002086); microcephaly (HP:0000252); hairline, high anterior (HP:0009890); scalp hair, sparse (HP:0002209); frontal bossing (HP:0002007); forehead, high (HP:0000348); forehead, narrow (HP:0000341); midface hypoplasia malar flattening (HP:0011800 HP:0000272); prognathism (HP:0000303); chin, tall (HP:0400000); epicanthus (HP:0000286); columella, short (HP:0002000); anteverted nares (HP:0000463); nasal bridge, depressed (HP:0005280); nose, short (HP:0003196); philtrum, long (HP:0000343); philtrum, smooth (HP:0000319); vermilion, upper lip, thin (HP:0000219); finger, short (HP:0009381); thumb, broad (HP:0011304); toes, overlapping (HP:0001845); 2 1 Johan den Dunnen
00428428 Fam9Pat11 PubMed: Cali 2022 - M no - Europe-N;Mayan;Spain;Africa - - - - NDD not small for gestational age (-HP:0001518); no feeding difficulties (-HP:0008872); no failure to thrive (-HP:0001508); short stature (HP:0004322); obesity (HP:0001513); no microcephaly (-HP:0000252); normal skull morphology (-HP:0000929); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); no abnormality neck (-HP:0000464); abnormality hand (HP:0001155); no abnormal foot morphology (-HP:0001760); global developmental delay (HP:0001263); mild intellectual disability (HP:0001249); seizure (HP:0001250); hypotonia (HP:0001252); abnormal brain morphology (HP:0012443), mild frontal lobe atrophy? uncorroborated data; abnormality eye (HP:0000478); no hearing impairment (-HP:0000365); no abnormality endocrine system (-HP:0000818); abnormality genitourinary system (HP:0000119); no abnormality respiratory system (-HP:0002086); forehead, narrow (HP:0000341); supraorbital ridges, prominent (HP:0000336); prognathism (HP:0000303); retrognathia (HP:0000278); chin, tall (HP:0400000); epicanthus (HP:0000286); palpebral fissure, upslanted (HP:0000582); synophrys (HP:0000664); anteverted nares (HP:0000463); nasal tip, broad (HP:0000455); philtrum, long (HP:0000343); vermilion, upper lip, thin (HP:0000219); finger, short (HP:0009381); metacarpal, short (HP:0010049); 2 1 Johan den Dunnen
00428429 Fam10Pat12 PubMed: Cali 2022 - M no - Hispanic - - - - NDD no intra-uterine growth retardation (-HP:0001511); small for gestational age (HP:0001518); short length at birth; feeding difficulties (HP:0008872); failure to thrive (HP:0001508); short stature (HP:0004322); obesity (HP:0001513); no microcephaly birth (-HP:0011451); no microcephaly (-HP:0000252); normal skull morphology (-HP:0000929); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); abnormality neck (HP:0000464); abnormality hand (HP:0001155); abnormal foot morphology (HP:0001760); global developmental delay (HP:0001263); hypotonia (HP:0001252); abnormal brain morphology (HP:0012443), 5 mm cystic appearing structure between the anterior and posterior lobes of the pituitary, pars intermedia cyst, otherwise unremarkable; hearing impairment (HP:0000365); no abnormality genitourinary system (-HP:0000119); no abnormality respiratory system (-HP:0002086); face, coarse (HP:0000280); forehead, narrow (HP:0000341); supraorbital ridges, prominent (HP:0000336); prognathism (HP:0000303); chin, tall (HP:0400000); eyes, widely spaced (HP:0000316); eyebrow, highly arched (HP:0002553); eyebrow, sparse (HP:0045075); palpebral fissure, upslanted (HP:0000582); columella, short (HP:0002000); nasal bridge, wide (HP:0000431); nasal tip, broad (HP:0000455); philtrum, long (HP:0000343); no vermilion, lower lip, everted (-HP:0000232); no vermilion, lower lip, thick (-HP:0000179); no vemilion, upper lip, tented (-HP:0010804); no vermilion, upper lip, thick (-HP:0000215); no vermilion, upper lip, thin (-HP:0000219); mouth, downturned corners of (HP:0002714); finger, short (HP:0009381); metatarsal, short (HP:0010743); thumb, broad (HP:0011304); 1 1 Johan den Dunnen
00428430 Fam11Pat13 PubMed: Cali 2022 - M no - white - - - - NDD no intra-uterine growth retardation (-HP:0001511); not small for gestational age (-HP:0001518); normal length at birth; no feeding difficulties (-HP:0008872); no failure to thrive (-HP:0001508); short stature (HP:0004322); obesity (HP:0001513); no microcephaly birth (-HP:0011451); no microcephaly (-HP:0000252); normal skull morphology (-HP:0000929); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); abnormality neck (HP:0000464); abnormality hand (HP:0001155); abnormal foot morphology (HP:0001760); global developmental delay (HP:0001263); seizure (HP:0001250); hypotonia (HP:0001252); abnormal brain morphology (HP:0012443), enlarged cisterna magna; abnormality eye (HP:0000478); no hearing impairment (-HP:0000365); no abnormality endocrine system (-HP:0000818); abnormality genitourinary system (HP:0000119); abnormality respiratory system (HP:0002086); forehead, high (HP:0000348); midface hypoplasia malar flattening (HP:0011800 HP:0000272); chin, broad (HP:0011822); eyes, widely spaced (HP:0000316); deeply set eyes (HP:0000490); palpebral fissure, short (HP:0012745); ptosis (HP:0000508); nasal bridge, wide (HP:0000431); nasal tip, broad (HP:0000455); high palate (HP:0000218); finger, short (HP:0009381); metatarsal, short (HP:0010743); 2 1 Johan den Dunnen
00428431 Fam12Pat14 PubMed: Cali 2022 - M yes Iraq - - - - - NDD not small for gestational age (-HP:0001518); no feeding difficulties (-HP:0008872); failure to thrive (HP:0001508); short stature (HP:0004322); no overweight (-HP:0025502); no microcephaly (-HP:0000252); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal oral morphology (HP:0031816); no abnormal foot morphology (-HP:0001760); global developmental delay (HP:0001263); no seizure (-HP:0001250); hypotonia (HP:0001252); normal brain morphology (HP:0012443); no abnormality eye (-HP:0000478); no hearing impairment (-HP:0000365); no abnormality genitourinary system (-HP:0000119); no abnormality respiratory system (-HP:0002086); prognathism (HP:0000303); chin, tall (HP:0400000); deeply set eyes (HP:0000490); no ala nasi, flared (-HP:0000454); no columella, low hanging (-HP:0009765); no columella, short (-HP:0002000); no naris, narrow (-HP:0009933); no naris, notched (-HP:0003191); no anteverted nares (-HP:0000463); no nasal bridge, depressed (-HP:0005280); no nasal bridge, narrow (-HP:0000446); no nasal bridge, prominent (-HP:0000426); no nasal bridge, wide (-HP:0000431); no nasal tip, broad (-HP:0000455); no nose, prominent (-HP:0000448); no nose, short (-HP:0003196); philtrum, short (HP:0000322); no vermilion, lower lip, everted (-HP:0000232); no vermilion, lower lip, thick (-HP:0000179); no vemilion, upper lip, tented (-HP:0010804); no vermilion, upper lip, thick (-HP:0000215); vermilion, upper lip, thin (HP:0000219); mouth, wide (HP:0000154); no high palate (-HP:0000218); no central incisor, prominent (-HP:0000675); no camptodactyly of finger (-HP:0100490); no finger, radial deviation of (-HP:0009466); no finger, short (-HP:0009381); no finger, tapered (-HP:0001182); no hallux, valgus (-HP:0001822); no metacarpal, short (-HP:0010049); no metatarsal, short (-HP:0010743); no pes cavus (-HP:0001761); no thumb, broad (-HP:0011304); no thumb, short (-HP:0009778); no toes, overlapping (-HP:0001845); no toe, short (-HP:0001831); 1 1 Johan den Dunnen
00428432 Fam13Pat15 PubMed: Cali 2022 - F yes - - - - - - NDD no intra-uterine growth retardation (-HP:0001511); small for gestational age (HP:0001518); normal length at birth; feeding difficulties (HP:0008872); failure to thrive (HP:0001508); short stature (HP:0004322); overweight (HP:0025502); no microcephaly birth (-HP:0011451); microcephaly (HP:0000252); normal skull morphology (-HP:0000929); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); abnormality neck (HP:0000464); abnormality hand (HP:0001155); abnormal foot morphology (HP:0001760); global developmental delay (HP:0001263); no seizure (-HP:0001250); hypotonia (HP:0001252); normal brain morphology (HP:0012443); abnormality eye (HP:0000478); no hearing impairment (-HP:0000365); no abnormality endocrine system (-HP:0000818); no abnormality genitourinary system (-HP:0000119); abnormality respiratory system (HP:0002086); microcephaly (HP:0000252); frontal bossing (HP:0002007); midface hypoplasia malar flattening (HP:0011800 HP:0000272); retrognathia (HP:0000278); chin, broad (HP:0011822); epicanthus (HP:0000286); deeply set eyes (HP:0000490); nasal bridge, wide (HP:0000431); nasal tip, broad (HP:0000455); philtrum, long (HP:0000343); vermilion, upper lip, thin (HP:0000219); high palate (HP:0000218); syndactyly/ webbing of the fingers (HP:0001159); finger, short (HP:0009381); metacarpal, short (HP:0010049); metatarsal, short (HP:0010743); 2 1 Johan den Dunnen
00428433 Fam14Pat16 PubMed: Cali 2022 - F no - - - - - - NDD no intra-uterine growth retardation (-HP:0001511); failure to thrive (HP:0001508); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); abnormality hand (HP:0001155); abnormal foot morphology (HP:0001760); global developmental delay (HP:0001263); severe intellectual disability (HP:0001249); hypotonia (HP:0001252); abnormality eye (HP:0000478); face, coarse (HP:0000280); forehead, narrow (HP:0000341); supraorbital ridges, prominent (HP:0000336); midface hypoplasia malar flattening (HP:0011800 HP:0000272); prognathism (HP:0000303); chin, tall (HP:0400000); eyebrow, sparse (HP:0045075); nasal bridge, prominent (HP:0000426); nose, short (HP:0003196); philtrum, short (HP:0000322); vemilion, upper lip, tented (HP:0010804); vermilion, upper lip, thin (HP:0000219); clinodactyly (HP:0030084); syndactyly/ webbing of the fingers (HP:0001159); hallux, valgus (HP:0001822); metatarsal, short (HP:0010743); 2 1 Johan den Dunnen
00428434 Fam15Pat17 PubMed: Cali 2022 family, 2 affected, unaffected heterozygous carrier parents M yes - Arab - - - - NDD no intra-uterine growth retardation (-HP:0001511); not small for gestational age (-HP:0001518); feeding difficulties (HP:0008872); no failure to thrive (-HP:0001508); short stature (HP:0004322); obesity (HP:0001513); no microcephaly (-HP:0000252); normal skull morphology (-HP:0000929); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); abnormality neck (HP:0000464); abnormality hand (HP:0001155); global developmental delay (HP:0001263); mild intellectual disability (HP:0001249); no seizure (-HP:0001250); hypotonia (HP:0001252); normal brain morphology (HP:0012443); abnormality eye (HP:0000478); no hearing impairment (-HP:0000365); no abnormality endocrine system (-HP:0000818); abnormality genitourinary system (HP:0000119); no abnormality respiratory system (-HP:0002086); forehead, narrow (HP:0000341); supraorbital ridges, prominent (HP:0000336); midface hypoplasia malar flattening (HP:0011800 HP:0000272); prognathism (HP:0000303); chin, broad (HP:0011822); chin, tall (HP:0400000); deeply set eyes (HP:0000490); eyebrow, low-set; eyebrow, horizontal (HP:0011228); eyebrow, sparse (HP:0045075); palpebral fissure, short (HP:0012745); anteverted nares (HP:0000463); nasal bridge, depressed (HP:0005280); nasal bridge, wide (HP:0000431); nasal tip, broad (HP:0000455); vermilion, lower lip, everted (HP:0000232); vermilion, lower lip, thick (HP:0000179); vermilion, upper lip, thin (HP:0000219); high palate (HP:0000218); finger, short (HP:0009381); finger, tapered (HP:0001182); 1 2 Johan den Dunnen
00428435 Fam15Pat18 PubMed: Cali 2022 - F yes - Arab - - - - NDD no intra-uterine growth retardation (-HP:0001511); not small for gestational age (-HP:0001518); feeding difficulties (HP:0008872); no failure to thrive (-HP:0001508); short stature (HP:0004322); obesity (HP:0001513); no microcephaly (-HP:0000252); normal skull morphology (-HP:0000929); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); abnormality neck (HP:0000464); abnormality hand (HP:0001155); global developmental delay (HP:0001263); moderate intellectual disability (HP:0001249); no seizure (-HP:0001250); hypotonia (HP:0001252); normal brain morphology (HP:0012443); abnormality eye (HP:0000478); no hearing impairment (-HP:0000365); no abnormality endocrine system (-HP:0000818); no abnormality genitourinary system (-HP:0000119); no abnormality respiratory system (-HP:0002086); forehead, narrow (HP:0000341); supraorbital ridges, prominent (HP:0000336); midface hypoplasia malar flattening (HP:0011800 HP:0000272); prognathism (HP:0000303); chin, broad (HP:0011822); chin, tall (HP:0400000); deeply set eyes (HP:0000490); eyebrow, low-set; eyebrow, horizontal (HP:0011228); palpebral fissure, upslanted (HP:0000582); palpebral fissure, short (HP:0012745); anteverted nares (HP:0000463); nasal bridge, depressed (HP:0005280); nasal bridge, wide (HP:0000431); nasal tip, broad (HP:0000455); philtrum, long (HP:0000343); philtrum, smooth (HP:0000319); vermilion, upper lip, thin (HP:0000219); high palate (HP:0000218); finger, short (HP:0009381); 1 1 Johan den Dunnen
00428436 Fam16Pat19 PubMed: Cali 2022 - F no - - - - - - NDD failure to thrive (HP:0001508); short stature (HP:0004322); microcephaly (HP:0000252); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); abnormality hand (HP:0001155); global developmental delay (HP:0001263); hypotonia (HP:0001252); normal brain morphology (HP:0012443); abnormality eye (HP:0000478); no hearing impairment (-HP:0000365); prognathism (HP:0000303); chin, tall (HP:0400000); eyes, widely spaced (HP:0000316); anteverted nares (HP:0000463); nasal bridge, depressed (HP:0005280); philtrum, long (HP:0000343); mouth, downturned corners of (HP:0002714); high palate (HP:0000218); finger, short (HP:0009381); 2 1 Johan den Dunnen
00428437 Fam17Pat20 PubMed: Cali 2022 - F yes - Kurdish - - - - NDD no intra-uterine growth retardation (-HP:0001511); small for gestational age (HP:0001518); normal length at birth; short stature (HP:0004322); overweight (HP:0025502); no microcephaly birth (-HP:0011451); microcephaly (HP:0000252); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); abnormal foot morphology (HP:0001760); global developmental delay (HP:0001263); hypotonia (HP:0001252); abnormality eye (HP:0000478); abnormality respiratory system (HP:0002086); eyes, widely spaced (HP:0000316); anteverted nares (HP:0000463); nose, short (HP:0003196); vermilion, upper lip, thin (HP:0000219); 1 1 Johan den Dunnen
00428438 Fam18Pat21 PubMed: Cali 2022 family, 2 affected, unaffected heterozygous carrier parents M yes Afghanistan - - - - - NDD not small for gestational age (-HP:0001518); normal length at birth; no short stature (-HP:0004322); no overweight (-HP:0025502); no microcephaly birth (-HP:0011451); no microcephaly (-HP:0000252); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); abnormality neck (HP:0000464); abnormality hand (HP:0001155); abnormal foot morphology (HP:0001760); global developmental delay (HP:0001263); severe intellectual disability (HP:0001249); seizure (HP:0001250); hypotonia (HP:0001252); abnormal brain morphology (HP:0012443), Arnold-Chiari malformation, hydrocephalus; no abnormality eye (-HP:0000478); no hearing impairment (-HP:0000365); no abnormality endocrine system (-HP:0000818); abnormality genitourinary system (HP:0000119); no abnormality respiratory system (-HP:0002086); forehead, narrow (HP:0000341); prognathism (HP:0000303); chin, broad (HP:0011822); chin, tall (HP:0400000); epicanthus (HP:0000286); eyebrow, horizontal (HP:0011228); eyebrow, sparse (HP:0045075); palpebral fissure, downslanted (HP:0000494); synophrys (HP:0000664); columella, short (HP:0002000); nasal tip, broad (HP:0000455); philtrum, long (HP:0000343); vermilion, upper lip, thin (HP:0000219); finger, short (HP:0009381); metatarsal, short (HP:0010743); toe, short (HP:0001831); nail, short (HP:0001799) 1 2 Johan den Dunnen
00428439 Fam18Pat22 PubMed: Cali 2022 - F yes Afghanistan - - - - - NDD short stature (HP:0004322); no overweight (-HP:0025502); microcephaly (HP:0000252); normal skull morphology (-HP:0000929); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); abnormality neck (HP:0000464); abnormality hand (HP:0001155); abnormal foot morphology (HP:0001760); global developmental delay (HP:0001263); severe intellectual disability (HP:0001249); seizure (HP:0001250); hypotonia (HP:0001252); normal brain morphology (HP:0012443); no abnormality eye (-HP:0000478); no hearing impairment (-HP:0000365); no abnormality endocrine system (-HP:0000818); no abnormality genitourinary system (-HP:0000119); no abnormality respiratory system (-HP:0002086); forehead, narrow (HP:0000341); supraorbital ridges, prominent (HP:0000336); midface hypoplasia malar flattening (HP:0011800 HP:0000272); chin, broad (HP:0011822); epicanthus (HP:0000286); eyebrow, sparse (HP:0045075); nasal bridge, depressed (HP:0005280); nasal bridge, wide (HP:0000431); nasal tip, broad (HP:0000455); philtrum, long (HP:0000343); vermilion, lower lip, everted (HP:0000232); vermilion, lower lip, thick (HP:0000179); vermilion, upper lip, thin (HP:0000219); finger, short (HP:0009381); toe, short (HP:0001831); 1 1 Johan den Dunnen
00428440 Fam19Pat23 PubMed: Cali 2022 - F no Canada;Russia white - - - - NDD no intra-uterine growth retardation (-HP:0001511); short stature (HP:0004322); no overweight (-HP:0025502); normal skull morphology (-HP:0000929); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); abnormal foot morphology (HP:0001760); global developmental delay (HP:0001263); moderate intellectual disability (HP:0001249); seizure (HP:0001250); abnormal brain morphology (HP:0012443), progressively extensive, confluent T2flair signal hyperintensity within the periventricular and subcortical white matter; no hearing impairment (-HP:0000365); hairline, high anterior (HP:0009890); forehead, high (HP:0000348); forehead, narrow (HP:0000341); supraorbital ridges, prominent (HP:0000336); midface hypoplasia malar flattening (HP:0011800 HP:0000272); prognathism (HP:0000303); chin, broad (HP:0011822); chin, tall (HP:0400000); deeply set eyes (HP:0000490); eyebrow, sparse (HP:0045075); anteverted nares (HP:0000463); nasal bridge, narrow (HP:0000446); philtrum, long (HP:0000343); philtrum, smooth (HP:0000319); vermilion, lower lip, everted (HP:0000232); vermilion, lower lip, thick (HP:0000179); vermilion, upper lip, thin (HP:0000219); high palate (HP:0000218); finger, short (HP:0009381); metatarsal, short (HP:0010743); pes cavus (HP:0001761); nail, short (HP:0001799) 2 1 Johan den Dunnen
00428441 Fam20Pat24 PubMed: Cali 2022 - M no - white - - - - NDD no intra-uterine growth retardation (-HP:0001511); small for gestational age (HP:0001518); normal length at birth; no feeding difficulties (-HP:0008872); no failure to thrive (-HP:0001508); no short stature (-HP:0004322); microcephaly birth (HP:0011451); microcephaly (HP:0000252); normal skull morphology (-HP:0000929); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); global developmental delay (HP:0001263); severe intellectual disability (HP:0001249); seizure (HP:0001250); hypotonia (HP:0001252); abnormal brain morphology (HP:0012443), periventricular leukomalacy; abnormality eye (HP:0000478); no hearing impairment (-HP:0000365); abnormality genitourinary system (HP:0000119); no abnormality respiratory system (-HP:0002086); hairline, high anterior (HP:0009890); frontal bossing (HP:0002007); forehead, high (HP:0000348); forehead, narrow (HP:0000341); supraorbital ridges, prominent (HP:0000336); midface hypoplasia malar flattening (HP:0011800 HP:0000272); micrognathia (HP:0000347); retrognathia (HP:0000278); chin, broad (HP:0011822); eyebrow, low-set; eyebrow, horizontal (HP:0011228); palpebral fissure, long (HP:0000637); palpebral fissure, upslanted (HP:0000582); naris, narrow (HP:0009933); anteverted nares (HP:0000463); nasal bridge, depressed (HP:0005280); nasal tip, broad (HP:0000455); nose, short (HP:0003196); philtrum, long (HP:0000343); vermilion, upper lip, thin (HP:0000219); central incisor, prominent (HP:0000675); finger, short (HP:0009381); finger, tapered (HP:0001182); thumb, broad (HP:0011304); thumb, short (HP:0009778); 2 1 Johan den Dunnen
00428442 Fam21Pat25 PubMed: Cali 2022 - F yes Iran - - - - - NDD no intra-uterine growth retardation (-HP:0001511); small for gestational age (HP:0001518); normal length at birth; no feeding difficulties (-HP:0008872); no failure to thrive (-HP:0001508); no overweight (-HP:0025502); no microcephaly birth (-HP:0011451); microcephaly (HP:0000252); normal skull morphology (-HP:0000929); no abnormality orbital region (-HP:0000315); no abnormal nasal morphology (-HP:0005105); abnormal oral morphology (HP:0031816); no abnormality neck (-HP:0000464); abnormality hand (HP:0001155); abnormal foot morphology (HP:0001760); global developmental delay (HP:0001263); seizure (HP:0001250); hypotonia (HP:0001252); abnormal brain morphology (HP:0012443), thin corpus callosum; abnormality eye (HP:0000478); no hearing impairment (-HP:0000365); abnormality genitourinary system (HP:0000119); no abnormality respiratory system (-HP:0002086); microcephaly (HP:0000252); scalp hair, sparse (HP:0002209); face, coarse (HP:0000280); forehead, narrow (HP:0000341); supraorbital ridges, prominent (HP:0000336); prognathism (HP:0000303); chin, broad (HP:0011822); chin, tall (HP:0400000); eyebrow, sparse (HP:0045075); palpebral fissure, short (HP:0012745); nasal bridge, prominent (HP:0000426); nasal tip, broad (HP:0000455); philtrum, smooth (HP:0000319); mouth, wide (HP:0000154); central incisor, prominent (HP:0000675); clinodactyly (HP:0030084); syndactyly/ webbing of the fingers (HP:0001159); finger, short (HP:0009381); hallux, valgus (HP:0001822); metatarsal, short (HP:0010743); toe, short (HP:0001831); nail, short (HP:0001799) 1 1 Johan den Dunnen
00428443 Fam22Pat26 PubMed: Cali 2022 family, 2 affected, unaffected heterozygous carrier parents M yes Iran - - - - - NDD no intra-uterine growth retardation (-HP:0001511); not small for gestational age (-HP:0001518); no feeding difficulties (-HP:0008872); no failure to thrive (-HP:0001508); short stature (HP:0004322); overweight (HP:0025502); no microcephaly (-HP:0000252); normal skull morphology (-HP:0000929); abnormality face (HP:0000271); global developmental delay (HP:0001263); seizure (HP:0001250); hypotonia (HP:0001252); hearing impairment (HP:0000365); abnormality genitourinary system (HP:0000119); hairline, high anterior (HP:0009890); face, coarse (HP:0000280); prognathism (HP:0000303); chin, broad (HP:0011822); chin, tall (HP:0400000); eyebrow, highly arched (HP:0002553); eyebrow, thick (HP:0000574); palpebral fissure, upslanted (HP:0000582); synophrys (HP:0000664); philtrum, short (HP:0000322); thumb, broad (HP:0011304); 1 2 Johan den Dunnen
00428444 Fam22Pat27 PubMed: Cali 2022 - F yes Iran - - - - - NDD no intra-uterine growth retardation (-HP:0001511); not small for gestational age (-HP:0001518); no feeding difficulties (-HP:0008872); no failure to thrive (-HP:0001508); normal skull morphology (-HP:0000929); abnormal foot morphology (HP:0001760); global developmental delay (HP:0001263); seizure (HP:0001250); hypotonia (HP:0001252); hearing impairment (HP:0000365); no abnormality genitourinary system (-HP:0000119); hairline, high anterior (HP:0009890); 1 1 Johan den Dunnen
00428445 Fam23Pat28 PubMed: Cali 2022 - M no Iran - - - - - NDD no intra-uterine growth retardation (-HP:0001511); small for gestational age (HP:0001518); feeding difficulties (HP:0008872); no failure to thrive (-HP:0001508); short stature (HP:0004322); overweight (HP:0025502); microcephaly (HP:0000252); abnormal skull morphology (HP:0000929); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); abnormality hand (HP:0001155); abnormal foot morphology (HP:0001760); global developmental delay (HP:0001263); seizure (HP:0001250); hypotonia (HP:0001252); abnormal brain morphology (HP:0012443), narrowing of the fourth ventricle in the AP dimension findings may reflect a cerebellar-posterior fossa size mismatch, mild supratentorial hydrocephalus, slight proportional elongation of the supraocciput without stenosis of the faramen magnum; abnormality eye (HP:0000478); no hearing impairment (-HP:0000365); no abnormality respiratory system (-HP:0002086); brachycephaly (HP:0000248); scalp hair, sparse (HP:0002209); face, coarse (HP:0000280); forehead, high (HP:0000348); forehead, narrow (HP:0000341); eyebrow, horizontal (HP:0011228); palpebral fissure, upslanted (HP:0000582); naris, narrow (HP:0009933); anteverted nares (HP:0000463); philtrum, long (HP:0000343); philtrum, smooth (HP:0000319); philtrum, deep (HP:0002002); vermilion, upper lip, thin (HP:0000219); mouth, downturned corners of (HP:0002714); finger, tapered (HP:0001182); 2 1 Johan den Dunnen
00428446 Fam24Pat29 PubMed: Cali 2022 - M no Iraq Jew-Ashkenazi - - - - NDD no intra-uterine growth retardation (-HP:0001511); not small for gestational age (-HP:0001518); short length at birth; no feeding difficulties (-HP:0008872); failure to thrive (HP:0001508); short stature (HP:0004322); no overweight (-HP:0025502); no microcephaly birth (-HP:0011451); no microcephaly (-HP:0000252); abnormal skull morphology (HP:0000929); no abnormality face (-HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); no abnormality neck (-HP:0000464); abnormality hand (HP:0001155); abnormal foot morphology (HP:0001760); global developmental delay (HP:0001263); no seizure (-HP:0001250); no hypotonia (-HP:0001252); abnormality eye (HP:0000478); no hearing impairment (-HP:0000365); no abnormality endocrine system (-HP:0000818); no abnormality genitourinary system (-HP:0000119); no abnormality respiratory system (-HP:0002086); epicanthus (HP:0000286); eyes, widely spaced (HP:0000316); columella, low hanging (HP:0009765); nose, short (HP:0003196); finger, short (HP:0009381); finger, tapered (HP:0001182); nail, narrow (HP:0011313); 2 1 Johan den Dunnen
00428447 Fam25Pat30 PubMed: Cali 2022 - M no Austria Europe - - - - NDD no intra-uterine growth retardation (-HP:0001511); small for gestational age (HP:0001518); short length at birth; feeding difficulties (HP:0008872); failure to thrive (HP:0001508); no short stature (-HP:0004322); no overweight (-HP:0025502); no microcephaly (-HP:0000252); normal skull morphology (-HP:0000929); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); abnormality neck (HP:0000464); abnormality hand (HP:0001155); no seizure (-HP:0001250); hypotonia (HP:0001252); abnormality eye (HP:0000478); no hearing impairment (-HP:0000365); no abnormality endocrine system (-HP:0000818); abnormality genitourinary system (HP:0000119); abnormality respiratory system (HP:0002086); hairline, high anterior (HP:0009890); scalp hair, sparse (HP:0002209); frontal bossing (HP:0002007); forehead, high (HP:0000348); midface hypoplasia malar flattening (HP:0011800 HP:0000272); prognathism (HP:0000303); retrognathia (HP:0000278); chin, broad (HP:0011822); chin, tall (HP:0400000); epicanthus (HP:0000286); eyes, widely spaced (HP:0000316); deeply set eyes (HP:0000490); eyebrow, sparse (HP:0045075); palpebral fissure, short (HP:0012745); columella, short (HP:0002000); naris, narrow (HP:0009933); nasal bridge, depressed (HP:0005280); nasal bridge, wide (HP:0000431); nasal tip, broad (HP:0000455); nose, short (HP:0003196); philtrum, long (HP:0000343); vermilion, upper lip, thin (HP:0000219); 2 1 Johan den Dunnen
00428448 Fam26Pat31 PubMed: Cali 2022 - M no - white - - - - NDD no intra-uterine growth retardation (-HP:0001511); small for gestational age (HP:0001518); short length at birth; no feeding difficulties (-HP:0008872); failure to thrive (HP:0001508); no short stature (-HP:0004322); obesity (HP:0001513); no microcephaly birth (-HP:0011451); no microcephaly (-HP:0000252); abnormal skull morphology (HP:0000929); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); abnormality hand (HP:0001155); abnormal foot morphology (HP:0001760); global developmental delay (HP:0001263); moderate intellectual disability (HP:0001249); no seizure (-HP:0001250); hypotonia (HP:0001252); abnormality eye (HP:0000478); no hearing impairment (-HP:0000365); abnormality genitourinary system (HP:0000119); no abnormality respiratory system (-HP:0002086); forehead, narrow (HP:0000341); supraorbital ridges, prominent (HP:0000336); midface hypoplasia malar flattening (HP:0011800 HP:0000272); chin, tall (HP:0400000); eyes, widely spaced (HP:0000316); eyebrow, sparse (HP:0045075); ptosis (HP:0000508); columella, short (HP:0002000); naris, narrow (HP:0009933); naris, notched (HP:0003191); anteverted nares (HP:0000463); nasal bridge, prominent (HP:0000426); nasal bridge, wide (HP:0000431); nasal tip, broad (HP:0000455); nose, short (HP:0003196); philtrum, long (HP:0000343); vermilion, upper lip, thick (HP:0000215); central incisor, prominent (HP:0000675); metatarsal, short (HP:0010743); thumb, broad (HP:0011304); toes, overlapping (HP:0001845); toe, short (HP:0001831); 2 1 Johan den Dunnen
00428449 Fam27Pat32 PubMed: Cali 2022 - F no - Arab - - - - NDD feeding difficulties (HP:0008872); failure to thrive (HP:0001508); short stature (HP:0004322); no overweight (-HP:0025502); microcephaly (HP:0000252); abnormal skull morphology (HP:0000929); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); global developmental delay (HP:0001263); moderate intellectual disability (HP:0001249); seizure (HP:0001250); abnormal brain morphology (HP:0012443), broadened gyri, small posterior staphyloma left eye globe; abnormality eye (HP:0000478); no abnormality respiratory system (-HP:0002086); hairline, high anterior (HP:0009890); forehead, narrow (HP:0000341); chin, broad (HP:0011822); epicanthus (HP:0000286); eyebrow, low-set; eyebrow, horizontal (HP:0011228); palpebral fissure, upslanted (HP:0000582); nasal bridge, depressed (HP:0005280); nasal tip, broad (HP:0000455); vermilion, lower lip, everted (HP:0000232); vermilion, lower lip, thick (HP:0000179); 2 1 Johan den Dunnen
00428450 Fam27Pat33 PubMed: Cali 2022 - M no - Arab - - - - NDD short stature (HP:0004322); obesity (HP:0001513); abnormal skull morphology (HP:0000929); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); global developmental delay (HP:0001263); moderate intellectual disability (HP:0001249); abnormality eye (HP:0000478); hearing impairment (HP:0000365); face, coarse (HP:0000280); forehead, narrow (HP:0000341); supraorbital ridges, prominent (HP:0000336); chin, broad (HP:0011822); eyebrow, low-set; eyebrow, horizontal (HP:0011228); eyebrow, sparse (HP:0045075); palpebral fissure, upslanted (HP:0000582); proptosis (HP:0000520); columella, short (HP:0002000); nasal bridge, depressed (HP:0005280); nasal tip, broad (HP:0000455); nose, short (HP:0003196); vermilion, lower lip, everted (HP:0000232); vemilion, upper lip, tented (HP:0010804); vermilion, upper lip, thick (HP:0000215); 2 1 Johan den Dunnen
00428451 Fam27Pat34 PubMed: Cali 2022 - F no - Arab - - - - NDD obesity (HP:0001513); abnormal skull morphology (HP:0000929); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); hairline, high anterior (HP:0009890); forehead, high (HP:0000348); forehead, narrow (HP:0000341); supraorbital ridges, prominent (HP:0000336); chin, broad (HP:0011822); palpebral fissure, long (HP:0000637); palpebral fissure, upslanted (HP:0000582); anteverted nares (HP:0000463); nasal tip, broad (HP:0000455); philtrum, short (HP:0000322); vermilion, lower lip, everted (HP:0000232); vermilion, lower lip, thick (HP:0000179); vermilion, upper lip, thin (HP:0000219); central incisor, prominent (HP:0000675); 2 1 Johan den Dunnen
00428452 Fam28Pat35 PubMed: Cali 2022 - F yes - Arab - - - - NDD short length at birth; feeding difficulties (HP:0008872); short stature (HP:0004322); no overweight (-HP:0025502); microcephaly birth (HP:0011451); microcephaly (HP:0000252); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormality hand (HP:0001155); global developmental delay (HP:0001263); abnormal brain morphology (HP:0012443), brain ultrasound premature gyral pattern indicates patient's prematurity; hairline, high anterior (HP:0009890); forehead, narrow (HP:0000341); midface hypoplasia malar flattening (HP:0011800 HP:0000272); chin, broad (HP:0011822); deeply set eyes (HP:0000490); eyebrow, sparse (HP:0045075); columella, short (HP:0002000); naris, narrow (HP:0009933); anteverted nares (HP:0000463); nasal bridge, depressed (HP:0005280); nasal bridge, wide (HP:0000431); nasal tip, broad (HP:0000455); philtrum, smooth (HP:0000319); vermilion, upper lip, thin (HP:0000219); finger, tapered (HP:0001182); hallux, valgus (HP:0001822); metacarpal, short (HP:0010049); thumb, broad (HP:0011304); 1 1 Johan den Dunnen
00428453 Fam29Pat36 PubMed: Cali 2022 - F no Netherlands - - - - - NDD no intra-uterine growth retardation (-HP:0001511); not small for gestational age (-HP:0001518); normal length at birth; no feeding difficulties (-HP:0008872); no failure to thrive (-HP:0001508); short stature (HP:0004322); obesity (HP:0001513); no microcephaly birth (-HP:0011451); no microcephaly (-HP:0000252); abnormal skull morphology (HP:0000929); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); abnormality neck (HP:0000464); abnormality hand (HP:0001155); abnormal foot morphology (HP:0001760); global developmental delay (HP:0001263); moderate intellectual disability (HP:0001249); seizure (HP:0001250); no hypotonia (-HP:0001252); normal brain morphology (HP:0012443); no abnormality eye (-HP:0000478); no hearing impairment (-HP:0000365); abnormality genitourinary system (HP:0000119); no abnormality respiratory system (-HP:0002086); 2 1 Johan den Dunnen
00428454 Fam1PatII2;Fam30Pat37 PubMed: Agolini 2018, PubMed: Cali 2022 - M yes - white - - - - NDD see paper; ..., no intra-uterine growth retardation (-HP:0001511); small for gestational age (HP:0001518); short length at birth; feeding difficulties (HP:0008872); failure to thrive (HP:0001508); short stature (HP:0004322); no overweight (-HP:0025502); microcephaly birth (HP:0011451); no microcephaly (-HP:0000252); normal skull morphology (-HP:0000929); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); abnormality neck (HP:0000464); abnormality hand (HP:0001155); abnormal foot morphology (HP:0001760); global developmental delay (HP:0001263); severe intellectual disability (HP:0001249); seizure (HP:0001250); hypotonia (HP:0001252); abnormal brain morphology (HP:0012443), mild enlargement of the lateral ventricles (more on the right) and third ventricle; abnormality eye (HP:0000478); no hearing impairment (-HP:0000365); no abnormality endocrine system (-HP:0000818); no abnormality genitourinary system (-HP:0000119); abnormality respiratory system (HP:0002086); microcephaly (HP:0000252); hairline, high anterior (HP:0009890); scalp hair, sparse (HP:0002209); frontal bossing (HP:0002007); forehead, high (HP:0000348); forehead, narrow (HP:0000341); prognathism (HP:0000303); chin, tall (HP:0400000); eyes, widely spaced (HP:0000316); deeply set eyes (HP:0000490); eyebrow, sparse (HP:0045075); palpebral fissure, upslanted (HP:0000582); anteverted nares (HP:0000463); nasal bridge, depressed (HP:0005280); philtrum, long (HP:0000343); vermilion, upper lip, thin (HP:0000219); finger, short (HP:0009381); toe, short (HP:0001831); 1 1 Johan den Dunnen
00428455 Fam2PatII1;Fam31Pat38 PubMed: Agolini 2018, PubMed: Cali 2022 family, 2 affected, unaffected heterozygous carrier parents M yes Tunisia - - - - - NDD see paper; ..., no intra-uterine growth retardation (-HP:0001511); not small for gestational age (-HP:0001518); normal length at birth; no feeding difficulties (-HP:0008872); no failure to thrive (-HP:0001508); no short stature (-HP:0004322); obesity (HP:0001513); no microcephaly birth (-HP:0011451); no microcephaly (-HP:0000252); normal skull morphology (-HP:0000929); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); abnormality neck (HP:0000464); abnormality hand (HP:0001155); global developmental delay (HP:0001263); severe intellectual disability (HP:0001249); seizure (HP:0001250); hypotonia (HP:0001252); abnormal brain morphology (HP:0012443), left cerebellopontine angle lipoma; no abnormality eye (-HP:0000478); no hearing impairment (-HP:0000365); no abnormality endocrine system (-HP:0000818); abnormality genitourinary system (HP:0000119); no abnormality respiratory system (-HP:0002086); frontal bossing (HP:0002007); forehead, narrow (HP:0000341); supraorbital ridges, prominent (HP:0000336); prognathism (HP:0000303); chin, tall (HP:0400000); deeply set eyes (HP:0000490); anteverted nares (HP:0000463); nose, prominent (HP:0000448); philtrum, long (HP:0000343); philtrum, short (HP:0000322); vermilion, lower lip, everted (HP:0000232); vermilion, lower lip, thick (HP:0000179); vermilion, upper lip, thick (HP:0000215); finger, short (HP:0009381); finger, tapered (HP:0001182); metacarpal, short (HP:0010049); thumb, broad (HP:0011304); thumb, short (HP:0009778); 1 2 Johan den Dunnen
00428456 Fam2PatII2;Fam31Pat39 PubMed: Agolini 2018, PubMed: Cali 2022 - F yes Tunisia - - - - - NDD see paper; ..., no intra-uterine growth retardation (-HP:0001511); not small for gestational age (-HP:0001518); normal length at birth; no feeding difficulties (-HP:0008872); no failure to thrive (-HP:0001508); short stature (HP:0004322); obesity (HP:0001513); no microcephaly birth (-HP:0011451); no microcephaly (-HP:0000252); normal skull morphology (-HP:0000929); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); abnormality neck (HP:0000464); abnormality hand (HP:0001155); global developmental delay (HP:0001263); moderate intellectual disability (HP:0001249); seizure (HP:0001250); hypotonia (HP:0001252); normal brain morphology (HP:0012443); abnormality eye (HP:0000478); hearing impairment (HP:0000365); abnormality endocrine system (HP:0000818); no abnormality genitourinary system (-HP:0000119); no abnormality respiratory system (-HP:0002086); hairline, high anterior (HP:0009890); frontal bossing (HP:0002007); forehead, high (HP:0000348); supraorbital ridges, prominent (HP:0000336); prognathism (HP:0000303); chin, tall (HP:0400000); deeply set eyes (HP:0000490); palpebral fissure, upslanted (HP:0000582); anteverted nares (HP:0000463); nasal tip, broad (HP:0000455); nose, prominent (HP:0000448); vermilion, lower lip, everted (HP:0000232); vermilion, lower lip, thick (HP:0000179); finger, short (HP:0009381); finger, tapered (HP:0001182); metacarpal, short (HP:0010049); thumb, broad (HP:0011304); thumb, short (HP:0009778); 1 1 Johan den Dunnen
00428457 ?;Fam32Pat40 PubMed: Akawi 2015, PubMed: Cali 2022 family, 2 affected F - - mixed - - - - NDD small for gestational age (HP:0001518); short stature (HP:0004322); obesity (HP:0001513); normal skull morphology (-HP:0000929); abnormality face (HP:0000271); abnormal nasal morphology (HP:0005105); abnormality hand (HP:0001155); global developmental delay (HP:0001263); mild intellectual disability (HP:0001249); no seizure (-HP:0001250); abnormal brain morphology (HP:0012443), mild atrophy with compensatory ventricular dilation Multiple small foci of subcortical and periventricular high signal changes consistent with cerebral ischeamia; abnormality endocrine system (HP:0000818); abnormality genitourinary system (HP:0000119); hairline, high anterior (HP:0009890); scalp hair, sparse (HP:0002209); forehead, narrow (HP:0000341); supraorbital ridges, prominent (HP:0000336); midface hypoplasia malar flattening (HP:0011800 HP:0000272); eyes, widely spaced (HP:0000316); columella, short (HP:0002000); nasal bridge, depressed (HP:0005280); nasal bridge, wide (HP:0000431); nose, short (HP:0003196); vermilion, lower lip, thick (HP:0000179); vemilion, upper lip, tented (HP:0010804); vermilion, upper lip, thick (HP:0000215); finger, short (HP:0009381); 2 2 Johan den Dunnen
00428458 ?;Fam32Pat41 PubMed: Akawi 2015, PubMed: Cali 2022 - F - - mixed - - - - NDD short stature (HP:0004322); obesity (HP:0001513); global developmental delay (HP:0001263); mild intellectual disability (HP:0001249); seizure (HP:0001250); abnormality eye (HP:0000478); abnormality endocrine system (HP:0000818); metacarpal, short (HP:0010049); 2 1 Johan den Dunnen
00428459 ?;Fam33Pat42 PubMed: Akawi 2015, PubMed: Cali 2022 family, 3 affected F no United Kingdom (Great Britain) white - - - - NDD not small for gestational age (-HP:0001518); no feeding difficulties (-HP:0008872); no failure to thrive (-HP:0001508); short stature (HP:0004322); obesity (HP:0001513); no microcephaly (-HP:0000252); normal skull morphology (-HP:0000929); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); abnormality neck (HP:0000464); abnormality hand (HP:0001155); abnormal foot morphology (HP:0001760); global developmental delay (HP:0001263); mild intellectual disability (HP:0001249); seizure (HP:0001250); hypotonia (HP:0001252); abnormality eye (HP:0000478); no hearing impairment (-HP:0000365); no abnormality endocrine system (-HP:0000818); no abnormality genitourinary system (-HP:0000119); forehead, narrow (HP:0000341); supraorbital ridges, prominent (HP:0000336); midface hypoplasia malar flattening (HP:0011800 HP:0000272); prognathism (HP:0000303); chin, tall (HP:0400000); eyes, widely spaced (HP:0000316); deeply set eyes (HP:0000490); eyebrow, sparse (HP:0045075); palpebral fissure, upslanted (HP:0000582); ptosis (HP:0000508); anteverted nares (HP:0000463); nasal bridge, depressed (HP:0005280); nasal bridge, wide (HP:0000431); nasal tip, broad (HP:0000455); nose, short (HP:0003196); philtrum, long (HP:0000343); philtrum, smooth (HP:0000319); vermilion, upper lip, thin (HP:0000219); central incisor, prominent (HP:0000675); 2 3 Johan den Dunnen
00428460 ?;Fam33Pat43 PubMed: Akawi 2015, PubMed: Cali 2022 - F no United Kingdom (Great Britain) white - - - - NDD not small for gestational age (-HP:0001518); feeding difficulties (HP:0008872); failure to thrive (HP:0001508); no short stature (-HP:0004322); obesity (HP:0001513); microcephaly (HP:0000252); normal skull morphology (-HP:0000929); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormality neck (HP:0000464); abnormality hand (HP:0001155); abnormal foot morphology (HP:0001760); global developmental delay (HP:0001263); mild intellectual disability (HP:0001249); seizure (HP:0001250); hypotonia (HP:0001252); abnormal brain morphology (HP:0012443), asymmetrical extension of the cystenra magna around the left cerebellar hemisphere, otherwise normal; abnormality eye (HP:0000478); hearing impairment (HP:0000365); forehead, narrow (HP:0000341); supraorbital ridges, prominent (HP:0000336); prognathism (HP:0000303); chin, tall (HP:0400000); eyebrow, sparse (HP:0045075); ptosis (HP:0000508); nasal tip, broad (HP:0000455); philtrum, long (HP:0000343); philtrum, smooth (HP:0000319); finger, short (HP:0009381); finger, tapered (HP:0001182); metacarpal, short (HP:0010049); metatarsal, short (HP:0010743); thumb, short (HP:0009778); toe, short (HP:0001831); 2 1 Johan den Dunnen
00428461 ?;Fam33Pat44 PubMed: Akawi 2015, PubMed: Cali 2022 - F no United Kingdom (Great Britain) white - - - - NDD not small for gestational age (-HP:0001518); no feeding difficulties (-HP:0008872); failure to thrive (HP:0001508); short stature (HP:0004322); no overweight (-HP:0025502); microcephaly (HP:0000252); normal skull morphology (-HP:0000929); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormality hand (HP:0001155); global developmental delay (HP:0001263); mild intellectual disability (HP:0001249); seizure (HP:0001250); hypotonia (HP:0001252); normal brain morphology (HP:0012443); abnormality eye (HP:0000478); no abnormality genitourinary system (-HP:0000119); prognathism (HP:0000303); chin, tall (HP:0400000); eyebrow, sparse (HP:0045075); ptosis (HP:0000508); nasal tip, broad (HP:0000455); philtrum, long (HP:0000343); mouth, narrow (HP:0000160); finger, short (HP:0009381); metacarpal, short (HP:0010049); metatarsal, short (HP:0010743); thumb, short (HP:0009778); toe, short (HP:0001831); 2 1 Johan den Dunnen
00428462 patient;Fam34Pat45 PubMed: Valenzuela 2019, PubMed: Cali 2022 - F no - white - - - - NDD see paper; ..., no intra-uterine growth retardation (-HP:0001511); small for gestational age (HP:0001518); short length at birth; no short stature (-HP:0004322); no overweight (-HP:0025502); no microcephaly birth (-HP:0011451); no microcephaly (-HP:0000252); normal skull morphology (-HP:0000929); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); abnormality hand (HP:0001155); global developmental delay (HP:0001263); no seizure (-HP:0001250); hypotonia (HP:0001252); normal brain morphology (HP:0012443); no abnormality eye (-HP:0000478); hearing impairment (HP:0000365); scalp hair, sparse (HP:0002209); forehead, narrow (HP:0000341); supraorbital ridges, prominent (HP:0000336); midface hypoplasia malar flattening (HP:0011800 HP:0000272); prognathism (HP:0000303); chin, tall (HP:0400000); eyes, widely spaced (HP:0000316); deeply set eyes (HP:0000490); eyebrow, low-set; eyebrow, horizontal (HP:0011228); palpebral fissure, short (HP:0012745); synophrys (HP:0000664); columella, short (HP:0002000); nasal bridge, depressed (HP:0005280); nasal bridge, wide (HP:0000431); nose, short (HP:0003196); philtrum, long (HP:0000343); vermilion, lower lip, everted (HP:0000232); vermilion, lower lip, thick (HP:0000179); vermilion, upper lip, thin (HP:0000219); mouth, narrow (HP:0000160); metacarpal, short (HP:0010049); metatarsal, short (HP:0010743); toe, short (HP:0001831); 2 1 Johan den Dunnen
00428463 ?;Fam35Pat46 PubMed: Akawi 2015, PubMed: Cali 2022 - F - - - - - - - NDD not small for gestational age (-HP:0001518); short stature (HP:0004322); no overweight (-HP:0025502); microcephaly (HP:0000252); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); abnormality neck (HP:0000464); abnormality hand (HP:0001155); abnormal foot morphology (HP:0001760); global developmental delay (HP:0001263); mild intellectual disability (HP:0001249); no seizure (-HP:0001250); hypotonia (HP:0001252); normal brain morphology (HP:0012443); abnormality eye (HP:0000478); hearing impairment (HP:0000365); abnormality endocrine system (HP:0000818); microcephaly (HP:0000252); eyes, widely spaced (HP:0000316); palpebral fissure, upslanted (HP:0000582); naris, narrow (HP:0009933); nasal bridge, wide (HP:0000431); nasal tip, broad (HP:0000455); finger, short (HP:0009381); metacarpal, short (HP:0010049); metatarsal, short (HP:0010743); toe, short (HP:0001831); 2 1 Johan den Dunnen
00428464 FamPat1;Fam36Pat47 PubMed: Poquerusse 2022, PubMed: Cali 2022 family, 2 affected, unaffected heterozygous carrier parents M yes - Middle East - - - - NDD short stature (HP:0004322); obesity (HP:0001513); microcephaly (HP:0000252); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); abnormality neck (HP:0000464); abnormality hand (HP:0001155); abnormal foot morphology (HP:0001760); global developmental delay (HP:0001263); severe intellectual disability (HP:0001249); seizure (HP:0001250); no hypotonia (-HP:0001252); abnormal brain morphology (HP:0012443), small focus of established gliosis in the right parieto-occipital region (prior hemorrhage), generalized parenchimal atrophy; no abnormality eye (-HP:0000478); no hearing impairment (-HP:0000365); abnormality genitourinary system (HP:0000119); microcephaly (HP:0000252); forehead, narrow (HP:0000341); supraorbital ridges, prominent (HP:0000336); prognathism (HP:0000303); chin, tall (HP:0400000); deeply set eyes (HP:0000490); eyebrow, sparse (HP:0045075); palpebral fissure, long (HP:0000637); palpebral fissure, upslanted (HP:0000582); ptosis (HP:0000508); nasal bridge, depressed (HP:0005280); nasal tip, broad (HP:0000455); vermilion, lower lip, everted (HP:0000232); vermilion, lower lip, thick (HP:0000179); high palate (HP:0000218); central incisor, prominent (HP:0000675); finger, short (HP:0009381); metacarpal, short (HP:0010049); metatarsal, short (HP:0010743); thumb, broad (HP:0011304); thumb, short (HP:0009778); toe, short (HP:0001831); 1 2 Johan den Dunnen
00428465 FamPat2;Fam36Pat48 PubMed: Poquerusse 2022, PubMed: Cali 2022 brother M yes - Middle East - - - - NDD small for gestational age (HP:0001518); short stature (HP:0004322); overweight (HP:0025502); no microcephaly (-HP:0000252); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormality hand (HP:0001155); no abnormal foot morphology (-HP:0001760); global developmental delay (HP:0001263); severe intellectual disability (HP:0001249); seizure (HP:0001250); hypotonia (HP:0001252); abnormality eye (HP:0000478); no hearing impairment (-HP:0000365); abnormality genitourinary system (HP:0000119); forehead, narrow (HP:0000341); prognathism (HP:0000303); retrognathia (HP:0000278); chin, tall (HP:0400000); deeply set eyes (HP:0000490); eyebrow, highly arched (HP:0002553); eyebrow, sparse (HP:0045075); palpebral fissure, long (HP:0000637); ptosis (HP:0000508); nasal bridge, depressed (HP:0005280); nasal bridge, narrow (HP:0000446); nasal bridge, prominent (HP:0000426); vermilion, lower lip, thick (HP:0000179); finger, short (HP:0009381); metatarsal, short (HP:0010743); 1 1 Johan den Dunnen
00428466 patient(Pat49) PubMed: Kernohan 2016 - M yes Afghanistan - - - - - NDD see paper; ..., no intra-uterine growth retardation (-HP:0001511); small for gestational age (HP:0001518); short length at birth; feeding difficulties (HP:0008872); failure to thrive (HP:0001508); short stature (HP:0004322); no overweight (-HP:0025502); microcephaly birth (HP:0011451); microcephaly (HP:0000252); abnormal skull morphology (HP:0000929); abnormality face (HP:0000271); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); abnormal oral morphology (HP:0031816); abnormality neck (HP:0000464); abnormality hand (HP:0001155); abnormal foot morphology (HP:0001760); global developmental delay (HP:0001263); severe intellectual disability (HP:0001249); seizure (HP:0001250); hypotonia (HP:0001252); abnormal brain morphology (HP:0012443), delayed myelination, thick corpus callosum; no abnormality eye (-HP:0000478); no hearing impairment (-HP:0000365); abnormality genitourinary system (HP:0000119); abnormality respiratory system (HP:0002086); microcephaly (HP:0000252); face, coarse (HP:0000280); forehead, narrow (HP:0000341); supraorbital ridges, prominent (HP:0000336); retrognathia (HP:0000278); chin, broad (HP:0011822); eyes, widely spaced (HP:0000316); deeply set eyes (HP:0000490); eyebrow, sparse (HP:0045075); palpebral fissure, short (HP:0012745); ptosis (HP:0000508); columella, short (HP:0002000); anteverted nares (HP:0000463); nasal bridge, depressed (HP:0005280); nasal bridge, wide (HP:0000431); nasal tip, broad (HP:0000455); nose, short (HP:0003196); philtrum, long (HP:0000343); vermilion, lower lip, thick (HP:0000179); vermilion, upper lip, thick (HP:0000215); high palate (HP:0000218); finger, short (HP:0009381); thumb, broad (HP:0011304); thumb, short (HP:0009778); nail, short (HP:0001799) 1 1 Johan den Dunnen
00428467 FamPatI2(Pat50) PubMed: Birnbaum 2019 2-generation family, 2 affected, unaffected heterozygous carrier parents M no - Jew-Bucharian - - - - NDD see paper; ..., no intra-uterine growth retardation (-HP:0001511); small for gestational age (HP:0001518); failure to thrive (HP:0001508); short stature (HP:0004322); no overweight (-HP:0025502); no microcephaly birth (-HP:0011451); no microcephaly (-HP:0000252); normal skull morphology (-HP:0000929); abnormality orbital region (HP:0000315); abnormal nasal morphology (HP:0005105); global developmental delay (HP:0001263); mild intellectual disability (HP:0001249); hypotonia (HP:0001252); abnormal brain morphology (HP:0012443), delayed myelination, dysmorphic changes of the anterior horns and lateral ventricles, subtle periventricular calcifications; abnormality eye (HP:0000478); hearing impairment (HP:0000365); abnormality genitourinary system (HP:0000119); frontal bossing (HP:0002007); palpebral fissure, upslanted (HP:0000582); nasal bridge, depressed (HP:0005280); syndactyly/ webbing of the fingers (HP:0001159); finger, short (HP:0009381); 1 2 Johan den Dunnen
00428468 FamPatI3(Pat51) PubMed: Birnbaum 2019 brother M no - Jew-Bucharian - - - - NDD see paper; ..., no intra-uterine growth retardation (-HP:0001511); small for gestational age (HP:0001518); abnormal brain morphology (HP:0012443), pilocitic astrocitoma; abnormality eye (HP:0000478); 1 1 Johan den Dunnen
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