All individuals with variants in gene LARP7

58 entries on 1 page. Showing entries 1 - 58.
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00000145 family PubMed: Alazami 2012 5-generation family, 10 affected (4F, 6M), unaffected heterozygous carrier parents/relatives F;M yes Saudi Arabia - - - - - SPD see paper; ..., primordial dwarfism (growth parameters <3.5 SD); severe intellectual disability; some with scoliosis, mild epiphyseal changes proximal phalanges; no dysplasia, normal bone age; triangular face, narrow and short palpebral fissure, deep-seated eyes, sparse eyebrows, low set ears, malar hypoplasia, broad nose, short philtrum, wide mouth, full lips, widely spaced teeth, strabismus 1 10 Anas M Alazami
00080897 - PubMed: Trujillano 2017 unaffected parents - - - - - - - - ALAZS Alazami syndrome (OMIM:615071) 1 1 Daniel Trujillano
00150153 26539891-FamBAB5283 PubMed: Karaca 2015 - - - - - - - family structure in paper - ? intellectual diability, brachydactyly, ASD and PS+PFO 1 2 Johan den Dunnen
00276129 FamPatII1 PubMed: Palumbo 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Italy - 11y - - - ? see paper; ..., low birth weight (2330g); patent foramen ovale; delayed early psychomotor development; 7m-head control, 18m-sit, 24m-walk, never attained fully autonomous walking, no speech, no sphincter control; profound bilateral neurosensorial deafness 1 1 Pietro Palumbo
00307105 - - - F - - - - - - - ? Global developmental delay (HP:0001263); Short stature (HP:0004322); Microcephaly (HP:0000252); Hypoplasia of the corpus callosum (HP:0002079); Failure to thrive (HP:0001508); Behavioral abnormality (HP:0000708); Ataxia (HP:0001251); Blue sclerae (HP:0000592) 2 1 IMGAG
00387786 M8600217 PubMed: Hu 2019 family, 2 affected individuals, first cousin parents - yes Iran Persia - - - - ID syndromic intellectual disability, microcephaly 1 2 Johan den Dunnen
00440456 PED3508.1 PubMed: Nambot 2018 - - - France - - - - - ? - 2 1 Johan den Dunnen
00453444 - - - F - - (not applicable) white - - - - ID HP:0001263, HP:0001249, HP:0001655, HP:0000504 2 1 Marketa Wayhelova
00457262 Fam8PatII1 PubMed: Barish 2024, Journal: Barish 2024 2-generation family, 3 affected sisters, unaffected heterozygous carrier parents F yes Saudi Arabia - - - - - NDD see paper; ..., no neonatal issues, birth 40w, SVD, weight 2500 g (-2 SD); no neonatal jaundice; 18m-sit; 2y-walk; 3y-single words; normal eyebrows; hypertelorism; deep set eyes; no strabismus; no ptosis; no prominent philtrum; no thin upper lip; no tented mouth; no everted lower lip; pointed chin; no open mouth; Triangular face, hypopigmented paches on external genitalia, lumbosacral dimple, butterfly vertebra at T11; intellectual disability; hypotonia; noraml cranial nerves; normal motor strength; normal sensory exam; normal reflexes; no movement abnormalities; some repetative movements, ADHD; no seizures; no hepatomegaly; no liver dysfunction; no intractable itching (pruritus); no recurrent pancreatitis; no feeding difficulty; no gastresophageal reflux; no steatorrhea; no chronic diarrhea; no gallstones; no gastrostomy tube; MRI brain normal; normal echo 1 3 Johan den Dunnen
00457263 Fam8PatII2 PubMed: Barish 2024, Journal: Barish 2024 sister F yes Saudi Arabia - - - - - NDD see paper; ..., 1d-skeletal deformity, birth 40w, SVD, weight 1600 g (-3.7 SD); no neonatal jaundice; >10y-sit; not yet walking; 5y-single words; marked global developmental delay; eyebrows with synophrys; hypertelorism; deep set eyes; no strabismus; no ptosis; long philtrum; no thin upper lip; no tented mouth; no everted lower lip; pointed chin; no open mouth; Triangular face, absent radii with hand deformity, hemivertebrae, camptodactyly of both hands, dorsiflexed big toes bilateraly and single kidney; intellectual disability; central hypotonia, appendicular hypertonia; noraml cranial nerves; normal motor strength; normal sensory exam; normal reflexes; no movement abnormalities; ADHD; no seizures; no hepatomegaly; no liver dysfunction; no intractable itching (pruritus); no recurrent pancreatitis; no feeding difficulty; no gastresophageal reflux; no steatorrhea; no chronic diarrhea; no gallstones; no gastrostomy tube; no undescended testicles; single kidney, grade 2 vesicoureteral reflux; no recurrent respiratory infections; no recurrent skin infections; MRI brain normal; ultrasound liver normal; 1 1 Johan den Dunnen
00457264 Fam8PatII3 PubMed: Barish 2024, Journal: Barish 2024 sister F yes Saudi Arabia - - - - - NDD see paper; ..., no prenatal issues, birth 37w, SVD, weight 2880 g (10%); no neonatal jaundice; 3y-sit; not yet walking; 3y-single words; normal eyebrows; no hypotelorism, no hypertelorism; normal palpebral fissures; no strabismus; no ptosis; no prominent philtrum; no thin upper lip; no tented mouth; no everted lower lip; no micro-/retro-/pro-gnathia; no open mouth; subtle dysmorphic features; intellectual disability; hypotonia; noraml cranial nerves; normal motor strength; normal sensory exam; normal reflexes; no movement abnormalities; no seizures; no hepatomegaly; no liver dysfunction; no intractable itching (pruritus); no recurrent pancreatitis; no feeding difficulty; no gastresophageal reflux; no steatorrhea; no chronic diarrhea; no gallstones; no gastrostomy tube; no recurrent respiratory infections; no recurrent skin infections; 1 1 Johan den Dunnen
00467590 349118 - - M yes Afghanistan - - - - - ALAZS Neurodevelopmental delay, Absent speech, Autism, Hyperglycemia, Elevated hemoglobin A1c 1 1 Andreas Laner
00467592 Fam1Pat1 PubMed: Al-Hinai 2022 family, 2 affected F - Oman - - - - - ALAZS see paper; ..., weight 26kg (-4.6 SD), height 133cm (-6.5 SD), OFC 48 (-5.9 SD); broad nose; short philtrum; low set ears; narrow and short palpebral fissure; intellectual disability; early developmental delay; seizure; autism spectrum disorder; myopia/hypermetropia; strabismus; pigmentary retinopathy; hyperthyroidism; renal artery stenosis 1 2 Johan den Dunnen
00467593 Fam1Pat2 PubMed: Al-Hinai 2022 sib M - Oman - - - - - ALAZS see paper; ..., broad nose; short philtrum; narrow and short palpebral fissure; intellectual disability; early developmental delay; bilateral proximal radioulnar synostosis. 1 1 Johan den Dunnen
00467594 Fam2Pat3 PubMed: Al-Hinai 2022 family, 1 affected M - Oman - - - - - ALAZS see paper; ..., weight 15kg (-2.5 SD), height 102cm (-5 SD), OFC 48 (-2.4 SD); broad nose; deep-seated eyes; low set ears; triangular face; narrow and short palpebral fissure; sparse eyebrows; malar hypoplasia; intellectual disability; early developmental delay; myopia/hypermetropia; strabismus; blue sclera; mild conductive hearing loss 1 1 Johan den Dunnen
00467595 Fam3Pat4 PubMed: Al-Hinai 2022 family, 1 affected F - Oman - - - - - ALAZS see paper; ..., weight 10kg (-8.7 SD), height 88cm (-5 SD), OFC 45(-3.8 SD); broad nose; short philtrum; deep-seated eyes; intellectual disability; early developmental delay; myopia/hypermetropia; strabismus; renal artery stenosis 1 1 Johan den Dunnen
00467596 Fam4Pat5 PubMed: Al-Hinai 2022 family, 1 affected M - Oman - - - - - ALAZS see paper; ..., weight 11kg (-3.8 SD), height 91cm (-4.5 SD), OFC 44 (-5.0 SD); broad nose; intellectual disability; early developmental delay; autism spectrum disorder; clinodactyly; atrial septal defect; micropenis 1 1 Johan den Dunnen
00467597 Fam5Pat6 PubMed: Al-Hinai 2022 family, 2 affected F - Oman - - - - - ALAZS see paper; ..., weight 28kg (-4.4 SD), height 126cm (-5.7 SD), OFC 50 (-4 SD); broad nose; short philtrum; deep-seated eyes; low set ears; triangular face; sparse eyebrows; wide mouth; intellectual disability; early developmental delay; anxiety; cutaneous syndactyly; myopia, steep cornea with increased lens thickness; strabismus; blue sclera; pigmentary retinopathy; crowded optic disks; ectopic kidney 2 2 Johan den Dunnen
00467598 Fam5Pat7 PubMed: Al-Hinai 2022 sib M - Oman - - - - - ALAZS see paper; ..., weight 26kg (-2.44 SD), height 129cm (-2.77 SD), OFC 50 (-2.55 SD); broad nose; short philtrum; deep-seated eyes; triangular face; malar hypoplasia; wide mouth; full lips; intellectual disability; early developmental delay; anxiety; syndactyly; thickened skin over the hands and feet; myopia, steep cornea with increased lens thickness; strabismus; blue sclera; pigmentary retinopathy; crowded optic disks; collecting system anomaly 2 1 Johan den Dunnen
00467599 Fam6Pat8 PubMed: Al-Hinai 2022 family, 2 affected F - Oman - - - - - ALAZS see paper; ..., weight 43kg (-0.4 SD), height 128(-4.1 SD), OFC 52 (-1.25 SD); broad nose; short philtrum; triangular face; intellectual disability; early developmental delay; seizure; cutis marmorata; collecting system anomaly; truncal obesity, acne vulgaris 1 2 Johan den Dunnen
00467600 Fam6Pat9 PubMed: Al-Hinai 2022 sib M - Oman - - - - - ALAZS see paper; ..., weight 18kg (-3.6 SD), height 113cm (-4.4 SD); broad nose; short philtrum; triangular face; intellectual disability; early developmental delay; spina bifida occulta; collecting system anomaly; undescended testis 1 1 Johan den Dunnen
00467601 Fam7Pat10 PubMed: Al-Hinai 2022 family, 1 affected M - Oman - - - - - ALAZS see paper; ..., weight 6.9kg (-4.2 SD), height 73cm (-2.8 SD), OFC 43 (-3.6 SD); deep-seated eyes; low set ears; intellectual disability; early developmental delay; stereotypic behavior; clinodactyly; undescended testis; atrial septal defect 1 1 Johan den Dunnen
00467602 Fam8Pat11 PubMed: Al-Hinai 2022 family, 2 affected F - Oman - - - - - ALAZS see paper; ..., weight 17kg (-2.6 SD), height 106cm (-3.8 SD), OFC 48 (-2.9 SD); broad nose; deep-seated eyes; low set ears; intellectual disability; early developmental delay; stereotypic behavior; myopia/hypermetropia; strabismus; blue sclera; pigmentary retinopathy; crowded optic disks; collecting system anomaly; atrial septal defect 1 2 Johan den Dunnen
00467603 Fam8Pat12 PubMed: Al-Hinai 2022 sib F - Oman - - - - - ALAZS see paper; ..., weight 9.3kg (-3.9 SD), height 87cm (-3.25 SD); broad nose; deep-seated eyes; low set ears; intellectual disability; early developmental delay; talipes equinovarus; myopia/hypermetropia; blue sclera; pigmentary retinopathy; atrial septal defect 1 1 Johan den Dunnen
00467604 G030 PubMed: Najmabadi 2011 family, 2 affected, unaffected heterozygous carrier parents - yes Iran - - - - - ID severe intellectual disability; microcephaly 1 2 Johan den Dunnen
00467605 patient PubMed: Ling 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F - United States white;Europe-N - - - - ID see paper; ..., intellectual disability; developmental delay, dysmorphic features, failure to thrive, involuntary movements upper limbs, ataxia, inability to flex thumbs bilaterally. 2 1 Johan den Dunnen
00467606 FamPat1 PubMed: Imbert-Bouteille 2019 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F yes Algeria - - - - - ? see paper; ..., severe intellectual disability, no speech; severe growth retardation, disproportionate mild microcephaly; no triangular face; no prominent forehead; narrow/short palpebral fissures; deep-set eyes; sparse eyebrows; no low set ears; no malar hypoplasia; broad nose; short philtrum; wide mouth; full lips; widely spaced teeth/tooth misalignment; scoliosis; hypermobility of distal tips; abnormally set toe(s)/fingers; skeletal anomalies; thickened skin over the hands and feet; cutis marmorata; no anxiety; no self-mutilation of hands; stereotypic behavior including hand wringing; selective eating behavior; seizures; no ocular anomalies; no strabismus; no atrial septal defect; disturbed sleep/sleep apnea episodes 1 2 Johan den Dunnen
00467607 FamPat2 PubMed: Imbert-Bouteille 2019 sister F yes Algeria - - - - - ? see paper; ..., severe intellectual disability, no speech; severe growth retardation, disproportionate mild microcephaly; no triangular face; no prominent forehead; no narrow/hort palpebral fissures; no deep-set eyes; no sparse eyebrows; no low set ears; malar hypoplasia; broad nose; no short philtrum; wide mouth; full lips; widely spaced teeth/tooth misalignment; no scoliosis; no hypermobility of distal tips; abnormally set toe(s)/fingers; skeletal anomalies; thickened skin over the hands and feet; cutis marmorata; no anxiety; no self-mutilation of hands; stereotypic behavior including hand wringing; selective eating behavior; no seizures; keratoconus; no strabismus; atrial septal defect; disturbed sleep/sleep apnea episodes 1 1 Johan den Dunnen
00467608 PatA PubMed: Hollink 2016 2-generation family, 1 affected, unaffected parents M no Netherlands - - - - - ID see paper; ..., severe developmental delay (22m at 5.1y,) intellectual disability (IQ37); 18m-walk; speech two-word sentences, echolalia; behavior happy, social; no self-mutilation; hyperactivity; no triangular face; prominent forehead; no narrow/short palpebral fissures; deep-seated eyes; no sparse eyebrows; no low-set ears; no malar hypoplasia; broad nose; no short philtrum; no wide mouth; full lips (only full lower lip); widely spaced teeth; scoliosis; clinodactyly first toe; thickened skin over hands, transient erythroblastic anemia of childhood 1 1 Johan den Dunnen
00467609 PatB PubMed: Hollink 2016 2-generation family, 1 affected, unaffected parents M yes Saudi Arabia - - - - - ? see paper; ..., intrauterine growth retardation; severe developmental delay (1y at 2.5y); 27m-walk; speech no single words;  ; no self-mutilation; no hyperactivity; triangular face; prominent forehead; narrow/short palpebral fissures; deep-seated eyes; sparse eyebrows; no low-set ears; malar hypoplasia; broad nose; short philtrum; wide mouth; full lips; widely spaced teeth; no scoliosis; second and fourth toes overlap over third toe; cleft palate, right torticollis 1 1 Johan den Dunnen
00467616 patient PubMed: Holohan 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Canada - - - - - ? see paper; ..., growth retardation (-3.5SD), moderate developmental delay, no regression, axial hypotonia; dysmorphic features (scaphocephalic, frontal bossing, prominent forehead, depressed/wide nasal bridge, mildly bulbous tip nose, telecanthus, mild hypertelorism, prominent ears, small hands with short distal phalanges/nails; MRI brain normal, small kidneys, several small atrial septal defects, mild left pulmonary artery stenosis, thin/short distal phalanges hands; borderline anemia 1 1 Johan den Dunnen
00467617 patient PubMed: Dateki 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M - Japan - - - - - ? see paper; ..., uncomplicated pregnancy; 38w-birth, length 46 cm (–1.3SD), weight 2.44 kg (−1.1 SD), subcoronal hypospadias, inguinal hernia, distinct facial features (prominent forehead, narrow palpebral fissures, deep-set eyes, hypertelorism, broad nose, malar hypoplasia; infancy severe hypotonia; delayed motor development (9m-head control, 10m-rolled over, 2y-walke; 2y-length 80.6 cm (−1.14 SD), weight 9.45 kg (−1.28 SD), no speech, intellectual disability (IQ67) 2 1 Johan den Dunnen
00467618 FamPatIV1 Journal: Hosseini 2019 4-generation family, 2 affected sisters, unaffected heterozygous carrier first-cousin parents F yes Iran - - - - - ID see paper; ..., birth normal length/weight/OFC; moderate intellectual disability, short stature, facial dysmorphism; 12y-height 128cm (-3.1SD), OFC 52cm (-0.85SD); developmental delay (3y-walk, 5y first speech); unbalanced gait; no triangular face, no prominent forehead, no deep-set eyes, no narrow/short palpebral fissures, sparse eyebrows, no malar hypoplasia, full lip, broad nose, hort philtrum, no widely spaced teeth, no wide mouth, strabismus, no scoliosis; seizure, micrognathia, flat nasal bridge 1 2 Johan den Dunnen
00467619 FamPatIV2 Journal: Hosseini 2019 sister F yes Iran - - - - - ID see paper; ..., birth normal length/weight/OFC; moderate intellectual disability, short stature, facial dysmorphism; 6y-height 102cm (-2.6SD), OFC 48cm (-2.3SD); developmental delay (3y-walk, 10y first speech); unbalanced gait; no triangular face, no prominent forehead, no deep-set eyes, no narrow/short palpebral fissures, sparse eyebrows, no malar hypoplasia, full lip, broad nose, hort philtrum, no widely spaced teeth, no wide mouth, strabismus, no scoliosis; seizure, micrognathia, flat nasal bridge 1 1 Johan den Dunnen
00467620 family Journal: Bajafar 2019 2-generation family, 3 affected sisters, unaffected heterozygous carrier parents F yes Saudi Arabia - - - - - ? see paper; ..., 26y/21y/20y developmental delay; motor delay, speech delay, mild dysmorphic facial features, short stature, sterotopies (hand washing)1/3 trichotillomania (partial baldness, bezoar formation; mild decrease OFC, low weight 1 3 Johan den Dunnen
00467628 FamPat8 PubMed: Elmas 2019 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M yes Turkey - - - - - ? see paper; ..., neurological disorder, multiple congenital anomalies; neuromotor developmental delay, severe learning disability, microcephaly, autistic behaviors, pulmonary stenosis, epiphyseal changes in the proximal phalanges, strabismus, tortuous at retinal blood vessels, hyperkeratosis, diabetes mellitus type 2, short stature, pes planus; MRI Arnold chiari malformation type 1; pulmonary stenosis 1 2 Johan den Dunnen
00467629 FamPat9 PubMed: Elmas 2019 sister F yes Turkey - - - - - ? see paper; ..., neurological disorder, multiple congenital anomalies; neuromotor developmental delay, severe learning disability, seizure, microcephaly, autistic behaviors, pulmonary stenosis, hyperkeratosis; MRI corpus callosum agenesis, distinct vascular structures, venous angioma; pulmonary stenosis 1 1 Johan den Dunnen
00467690 patient PubMed: Das 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes India - - - - - ? see paper; ..., delayed milestones, severe intellectual disability; height 123.5 cm (<−3SD), 46.3 cm (<−3SD); triangular face, prominent forehead, malar flattening, micrognathia, laterally sparse eyebrows; left eye buphthalmos; prominent nose, broad nasal tip/ridge; short philtrum; wide mouth, cleft palate, dental crowding, full lips; cortical thinning phalanges and metacarpals; behavior hyperactive, stubborn; café au lait macule on right forearm; inguinal hernia 1 1 Johan den Dunnen
00467692 FamPat2 PubMed: Das 2021 2-generation family, 2 affected sisters, unaffected parents F no India - - - - - ID see paper; ..., delayed milestones, severe intellectual disability; height 144 cm (Z−2.9), OFC 53cm (−2SD); triangular face, long face, prominent forehead, malar flattening, prognathism; highly arched eyebrows; prominent nose, bifid nasal tip; short philtrum; high palate, dental crowding, macrodontia; clinodactyly 5th finger, triphalangeal thumb; behavior aggressive, occasional self-injurious 1 2 Johan den Dunnen
00467693 FamPat3 PubMed: Das 2021 sister F no India - - - - - ID see paper; ..., delayed milestones, severe intellectual disability; height 139cm (SD-3), OFC 51cm (−2SD); long face, malar flattening, highly arched eyebrows, prognathism; prominent nose, bifid nasal tip; short philtrum; low set ears; high palate, dental crowding, macrodontia; gingival overgrowth; long slender fingers; behavior aggressive, emotional lability 1 1 Johan den Dunnen
00467694 patient PubMed: Wojcik 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents M no United States - - - - - ? see paper; ..., failure to thrive, short stature, concern for aspiration, unique facial features; intrauterine growth restriction; poor weight gain, linear growth 2 1 Johan den Dunnen
00467695 patient PubMed: Ivanovski 2020 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Italy - - - - - ALAZS see paper; ... 2 1 Johan den Dunnen
00467696 patient PubMed: Patalan 2022 2-generation family, 1 affected, unaffected parents M no Poland - - - - - ID, PKU see paper; ... 2 1 Johan den Dunnen
00467697 patient PubMed: Fauntleroy-Love 2023 2-generation family, 1 affected, unaffected parents M - United States - - - - - ? see paper; ..., facial dysmorphism, poor growth, cardiac/genitourinary findings, developmental delay; transient erythroblastopenia of childhood (TEC), immune deficiency; periventricular nodular heterotopia, stroke; growth retardation (height -4.91 SD, weight -3.03 SD), OFC (-1.37 SD), global developmental delay, feeding difficulties, failure to thrive (and severe malnutrition), neonatal aspiration on swallow study, atrial septal defect with left to right shunt, pyelectasis, bilateral hydronephross, obstructive sleep apnea, frequent ear infections and multiple upper respiratory infections, diarrhea (resolved), elevated erythrocyte sedimentation rate, bilateral testicles in the inguinal canals, oropharyngeal dysphasia and delayed swallow trigger, anemic, erythroblastopenia of childhood, sensorineural hearing loss 1 1 Johan den Dunnen
00467698 patient PubMed: Buisine-Sbraggia 2025 2-generation family, 1 affected, unaffected carrier mother M no France - - - - - DD see paper; ..., syndromic global developmental delay; low birth size, posterior cleft palate, micropenis, mild neonatal global hypotonia, global developmental delay, stereotypic hands and fingers wringing, feeding difficulties (frequent aspirations, gastroesophageal reflux, growth retardation (weight <−3 SD, height −3.2 SD), microcephaly (−2.4 SD) 2 1 Johan den Dunnen
00467699 family PubMed: Gana 2020 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents M - Romania - - - - - SLOS see paper; ..., no intrauterine growth restriction; Developmental delay, recurrent urinary tract infections, hypospadias, strabismus, growth retardation (weight 3rd percentile, height <3rd percentile), microcephaly (OFC <2nd centile), moderate intellectual disability (IQ 44) 1 2 Johan den Dunnen
00467700 family PubMed: Gana 2020 brother M - Romania - - - - - SLOS see paper; ..., developmental delay, growth retardation, mild intellectual disability (IQ 59), congenital heart defect; prominent forehead, sparse eyebrows, hypertelorism, up-slanting palpebral fissures, large nose, short philtrum, full lips, widely spaced teeth; bilateral partial syndactyly second/third toes 1 1 Johan den Dunnen
00467701 Pat1 PubMed: Kazemi 2020 2-generation family, 1 affected, unaffected parents - yes Iran - - - - - ID see paper; ..., syndromic intellectual disability, facial dysmorphism, short stature 1 1 Johan den Dunnen
00467702 Pat2 PubMed: Kazemi 2020 2-generation family, 1 affected, unaffected parents - yes Iran - - - - - ID see paper; ., syndromic intellectual disability, facial dysmorphism, short stature 1 1 Johan den Dunnen
00467703 FamPat1 PubMed: Ambrose 2025 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F - Canada - - - - - DD see paper; ..., global developmental delay, cognitive dysfunction, failure to thrive, intra-uterine growth restriction, difficulty in feeding, febrile seizure, behavior problems characterized by obsessive-compulsive disorder, mild to moderate hearing loss, moderate intellectual disability with low adaptive functioning; triangular face, broad nose, flat and wide nasal bridge, malar hypoplasia, short philtrum, full lips, macrostomia, widely spaced teeth, widely spaced eyes, prominent and wide nasal tip, long face, thick lips; MRI brain normal; normal ECG and ECHO 1 2 Johan den Dunnen
00467704 FamPat2 PubMed: Ambrose 2025 sister F - Canada - - - - - DD see paper; ..., global developmental delay, attention deficit disorder, cognitive dysfunction, failure to thrive, IUGR, growth retardation; no seizures; intra-uterine growth restriction; triangular face, prominent forehead, broad nose, flat and wide nasal bridge, prominent and wide nasal tip, malar hypoplasia, short philtrum, full lips, macrostomia, widely spaced teeth, synophrys, widely spaced eyes, long face, thick lips; MRI brain normal; ECHO non-stenotic bi-commissural aortic valve, dilated left ventricle 1 1 Johan den Dunnen
00467705 Pat3 PubMed: Ambrose 2025 2-generation family, 1 affected, unaffected parents M - Canada - - - - - DD see paper; ..., jaundice, cephalohematoma, failure to thrive, global developmental delay, behavioral problems, intoeing gait, disordered sleep (nocturnal awakenings, moderate sleep fragmentation), chronic otitis media, ADHD, anxiety, autism spectrum disorder, gastroesophageal reflux disease, intellectual disability, constipation, urinary incontinence, hyperreflexia in the arms and legs, lordosis of the lumbar region, sacral asymmetry, scoliosis, back pain, spasticity in the lower extremities, pain at back of head, growth retardation (weight 2nd percentile, height <1st percentile); no seizures; intra-uterine growth restriction; prominent forehead, deep-set eyes, low-set ears, a broad nose, a large mouth, widely spaced teeth, long philtrum, thin upper lip. 1 1 Johan den Dunnen
00467706 patient PubMed: Yuan 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents - no China - - - - - NDD see paper; ... 2 1 Johan den Dunnen
00467707 patient PubMed: He 2022 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F no China - - - - - NDD see paper; ... 2 2 Johan den Dunnen
00467708 patient PubMed: Thouqan 2025 2-generation family, 1 affected, unaffected heterozygous carrier parent M yes Palestine - - - - - ID see paper; ..., developmental delay, intellectual disability, characteristic facial dysmorphisms, triangular face, deep-set eyes, prominent forehead, no narrow/short palpebral fissure, deep-seated eyes, sparse eyebrows, malar hypoplasia, no strabismus, no hypertelorism, no prominent nose, broad nose, no short philtrum, low-set ears, full lips, no wide mouth 1 2 Johan den Dunnen
00467710 FamAPatII2 PubMed: Soengas-Gonda 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Spain - - - - - ? see paper; ..., severe intrauterine growth restriction; failure to thrive, epilepsy, global developmental delay. 2 1 Johan den Dunnen
00467711 FamBPatII1 PubMed: Soengas-Gonda 2023 2-generation family, affected brother/sister, unaffected heterozygous carrier parents M - Spain - - - - - DD see paper; ..., 40w-birth, weight 2,500g (-2.3 SD), length 47.5cm (-1.79SD), OFC 33.5 m (-1.12 SD); dysmorphic features, microcephaly, prominent forehead, wide nose, hypertelorism, wide mouth, widely spaced teeth; thrust of hallux on second toe both feet; aphasia, presence of stereotypes, hypersalivation, equinus foot; 1y-severe developmental delay, autism spectrum disorder; 3y-ebrile seizures, recurrent otitis, upper respiratory tract infections 1 2 Johan den Dunnen
00467712 FamBPatII2 PubMed: Soengas-Gonda 2023 sister F no Spain - - - - - DD see paper; ..., intrauterine growth restriction, 38w+2-birth, weight 2.100g (-2.51 SD), length 43cm (-3.54 SD), OFC 32cm (-1.35 SD).; dysmorphic features, wide nose, hypertelorism, microcephaly; 20m-walk, expressive language very poor, developmental delay, used gestures/signals to communicate; severe developmental delay, hypersalivation, equinus foot (improved with rehabilitation) 1 1 Johan den Dunnen
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