All individuals with variants in gene TAF1

38 entries on 1 page. Showing entries 1 - 38.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 7 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 4 1 Yu Sun
00054900 - Journal: O'Rawe 2015 3-generation family, 2 affected brothers, unaffected heterozygous carrier mother M - United States European >15y - - - ID intrauterine growth retardation (HP:0001511); postnatal growth retardation (HP:0008897); delayed gross motor development (HP:0002194); delayed speech and language development (HP:0000750); oral-pharyngeal dysphagia (HP:0200136); prominent supraorbital ridges (HP:0000336); downslanted palpebral fissures (HP:0000494); deeply-set eye (HP:0000490); prominent forehead (HP:0011220); sagging cheeks; long philtrum (HP:0000343); low-set ears (HP:0000369); protruding ear (HP:0000411); thickened helices (large earlobe HP:0009748); long face (HP:0000276); microretrognathia (HP:0000308); thin upper lip (thin upper lip vermilion HP:0000219); pointed chin (HP:0000307); depigmentation (depigmentation/hyperpigmentation of skin HP:0007483); hypertelorism (HP:0000316) (on the scalp); aplasia cutis congenita (HP:0001057); toenail dysplasia (HP:0100797); hearing impairment (HP:0000365) (mixed, HP:0000410); chromic otitis media (HP:0000389); strabismus (HP:0000486); nasolacrimal duct obstruction (HP:0000579); oculomotor dysfuntion (abnormality of eye movement HP:0000496); microcephaly (HP:0000252); mild ventriculomegaly (HP:0002119); hypoplasia of the corpus callosum (HP:0002079), posterior>anterior; hypoplasia of the cerebellar vermis (HP:0001320); deficiency of the septum pellucidum (abnormality of the septum pellucidum HP:0007375); deficiency of the falx cerebri; generalized hypotonia (HP:0001290); gait abnormalities (gait disturbance HP:0001288); balance problem (gait imbalance HP:0002141); diplegia (spastic diplegia HP:0001264); ataxia (HP:0001251); osteopenia (HP:0000938); unusual gluteal crease with sacral caudal remnant/sacral dimple (abnormal sacral segmentatino, HP:0008468), prominent protruding coccyx (HP:0008472); joint hypermobility (HP:0001382), metacarpophalangeal joint hyperextensibility (HP:0006099), hyperextensibility at wrists (HP:0005072); spasticity (HP:0001257), lower extremity (HP:0002061); kyphosis (HP:0002808); short neck (HP:0000470); autistic behaviors (HP:0000729); attention deficit hyperactivity disorder (HP:0007018); anxiety (HP:0000739); intellectual disability (HP:0001249); not present -HP:0000463, -HP:0000414, -HP:0000545, -HP:0000639, -HP:0000960, -HP:0000964, -HP:0001007, -HP:0001250, -HP:0001315, -HP:0001337, -HP:0002019, -HP:0002020, -HP:0002650, -HP:0004696, -HP:0006979, -HP:0011927; placenta deterioration, birth 40w, caesarian section (HP:0011410), weight 2210 1 2 Johan den Dunnen
00054901 - Journal: O'Rawe 2015 brother of Fam1Pat1A M - United States European >13y - - - ID neonatal jaundice, poor feeding (HP:0011968); intrauterine growth retardation (HP:0001511); postnatal growth retardation (HP:0008897); delayed gross motor development (HP:0002194); delayed speech and language development (HP:0000750); oral-pharyngeal dysphagia (HP:0200136); prominent supraorbital ridges (HP:0000336); downslanted palpebral fissures (HP:0000494); deeply-set eye (HP:0000490); prominent forehead (HP:0011220); sagging cheeks; long philtrum (HP:0000343); low-set ears (HP:0000369); protruding ear (HP:0000411); thickened helices (large earlobe HP:0009748); long face (HP:0000276); microretrognathia (HP:0000308); thin upper lip (thin upper lip vermilion HP:0000219); pointed chin (HP:0000307); depigmentation (depigmentation/hyperpigmentation of skin HP:0007483); aplasia cutis congenita (HP:0001057); frequent dermatitis & eczema (eczema HP:0000964); toenail dysplasia (HP:0100797); hearing impairment (HP:0000365) (mixed, HP:0000410); chromic otitis media (HP:0000389); strabismus (HP:0000486); nasolacrimal duct obstruction (HP:0000579); oculomotor dysfuntion (abnormality of eye movement HP:0000496); constipation (HP:0002019); gastroesophageal reflux (HP:0002020); microcephaly (HP:0000252); mild ventriculomegaly (HP:0002119); hypoplasia of the corpus callosum (HP:0002079), posterior>anterior; hypoplasia of the cerebellar vermis (HP:0001320); deficiency of the septum pellucidum (abnormality of the septum pellucidum HP:0007375); deficiency of the falx cerebri; generalized hypotonia (HP:0001290); gait abnormalities (gait disturbance HP:0001288); balance problem (gait imbalance HP:0002141); ataxia (HP:0001251); sleep-wake cycle disturbance (HP:0006979); unusual gluteal crease with sacral caudal remnant/sacral dimple (abnormal sacral segmentatino, HP:0008468), prominent protruding coccyx (HP:0008472); finger joint hypermobility (HP:0001382), hyperextensibility at wrists (HP:0005072); hip dysplasia; spasticity (HP:0001257), lower extremity (HP:0002061); thoracic kyphosis (HP:0002942); scoliosis (HP:0002650); short neck (HP:0000470); H/O asthma (HP:0002099); (H/O murmur (HP:0030148) without cardiovascular abnormalities); autistic behaviors (HP:0000729); attention deficit hyperactivity disorder (HP:0007018); anxiety (HP:0000739); intellectual disability (HP:0001249); overlapped toes (HP:), genu balgum (HP:); not present -HP:0000463, -HP:0000316, -HP:0000414, -HP:0000545, -HP:0000639, -HP:0000960, -HP:0001007, -HP:0001250, -HP:0001264, -HP:0001315, -HP:0001337, -HP:0004696, -HP:0011927; placenta deterioration, birth 37w, caesarian section (HP:0011410), weight 1760 1 1 Johan den Dunnen
00054902 - Journal: O'Rawe 2015 2-generation family, 1 affected M - United States European >5y - - - ID poor feedings requiring NG tube (Nasogastric tube feeding in infancy, HP:0011470); postnatal growth retardation (HP:0008897); delayed gross motor development (HP:0002194); delayed speech and language development (HP:0000750); oral-pharyngeal dysphagia (HP:0200136); (short) downslanted palpebral fissures (HP:0000494); prominent forehead (HP:0011220); smooth philtrum HP:0000319; low-set ears (HP:0000369), p osteriorly rotated (HP:0000358); protruding ear (HP:0000411); high arched palate (high palate HP:0000218); microretrognathia (HP:0000308); broad upturned nose (anteverted nares HP:0000463); bulbous nasal tip (bulbous nose HP:0000414); aplasia cutis congenita (HP:0001057); hearing impairment (HP:0000365), ensorineural H(P:0000407); chromic otitis media (HP:0000389); strabismus (HP:0000486); myopia (HP:0000545); nystagmus (HP:0000639); oculomotor dysfuntion (abnormality of eye movement HP:0000496); constipation (HP:0002019); microcephaly (HP:0000252); mild ventriculomegaly (HP:0002119); hypoplasia of the corpus callosum (HP:0002079), anterior>posterior; severehypoplasia of the cerebellar vermis (HP:0001320); deficiency of the falx cerebri; generalized hypotonia (HP:0001290); gait abnormalities (gait disturbance HP:0001288); unusual gluteal crease with sacral caudal remnant/sacral dimple (abnormal sacral segmentatino, HP:0008468), prominent protruding coccyx (HP:0008472); talipes cavus equinovarus (HP:0004696); short digit (HP:0011927); atrial septum defect (HP:0001631), aortic coarctation (HP:0001680); cryptorchidism (HP:0000028), vesicoureteral reflux (HP:0000076); autistic behaviors (HP:0000729); intellectual disability (HP:0001249); not present -HP:0000219, -HP:0000276, -HP:0000307, -HP:0000316, -HP:0000336, -HP:0000470, -HP:0000490, -HP:0000579, -HP:0000739, -HP:0000938, -HP:0000960, -HP:0000964, -HP:0001007, -HP:0001250, -HP:0001251, -HP:0001257, -HP:0001264, -HP:0001337, -HP:0001382, -HP:0001511, -HP:0002020, -HP:0002141, -HP:0002650, -HP:0002808, -HP:0006979, -HP:0007018, -HP:0007375, -HP:0007483, -HP:0009748, -HP:0100797; full term, caesarian section (HP:0011410), weight 2340, height 47 1 1 Johan den Dunnen
00054903 - Journal: O'Rawe 2015 2-generation family, 1 affected M - Netherlands European >6y - - - ID first week no abnormalities. After weeks increasing probem but this was due to the weakness caused by his heart condition; postnatal growth retardation (HP:0008897); does not walk independently; no words; oral-pharyngeal dysphagia (HP:0200136); prominent supraorbital ridges (HP:0000336); long philtrum (HP:0000343); low-set ears (HP:0000369); protruding ear (HP:0000411); high arched palate (high palate HP:0000218); broad upturned nose (anteverted nares HP:0000463); bulbous nasal tip (bulbous nose HP:0000414); synophrys (HP:0000664); pigmented spots on hands; _; aplasia cutis congenita (HP:0001057); frequent dermatitis & eczema (eczema HP:0000964); toenail dysplasia (HP:0100797); hearing impairment (HP:0000365) (mixed, HP:0000410); strabismus (HP:0000486); myopia (HP:0000545); nystagmus (HP:0000639); oculomotor dysfuntion (abnormality of eye movement HP:0000496); microcephaly (HP:0000252); generalized hypotonia (HP:0001290); balance problem (gait imbalance HP:0002141); NL; unusual gluteal crease with sacral caudal remnant/sacral dimple (abnormal sacral segmentatino, HP:0008468), prominent protruding coccyx (HP:0008472); joint hypermobility (HP:0001382); talipes cavus equinovarus (HP:0004696); lumbar kyphosis (HP:0002808); frequent penumonia; AVSD, coarctation, aberrant pulomonal vene; intellectual disability (HP:0001249); N/A; neonatal tooth and abnormal enamel of primary dentition, not toilet trained; not present -HP:0000219, -HP:0000276, -HP:0000307, -HP:0000308, -HP:0000389, -HP:0000470, -HP:0000490, -HP:0000494, -HP:0000579, -HP:0000729, -HP:0000739, -HP:0000767, -HP:0000960, -HP:0001007, -HP:0001250, -HP:0001251, -HP:0001257, -HP:0001264, -HP:0001288, -HP:0001337, -HP:0001511, -HP:0002019, -HP:0002020, -HP:0002650, -HP:0005469, -HP:0006979, -HP:0007018, -HP:0008070, -HP:0009748, -HP:0011220, -HP:0011927; birth 42w, weight 2990 1 1 Johan den Dunnen
00054904 - Journal: O'Rawe 2015 2-generation family, 1 affected M - United States European >9y - - - ID decelerations, resuscitation; postnatal growth retardation (HP:0008897); delayed gross motor development (HP:0002194); delayed speech and language development (HP:0000750); downslanted palpebral fissures (HP:0000494); deeply-set eye (HP:0000490); prominent forehead (HP:0011220); long philtrum (HP:0000343); low-set ears (HP:0000369); protruding ear (HP:0000411); bifid uvula; thin upper lip (thin upper lip vermilion HP:0000219); pointed chin (HP:0000307); broad upturned nose (anteverted nares HP:0000463); synophrys (HP:0000664); hypertelorism (HP:0000316); sacral dimple (HP:0000960); hirsutism (HP:0001007); chromic otitis media (HP:0000389); constipation (HP:0002019); gastroesophageal reflux (HP:0002020); microcephaly (HP:0000252); generalized hypotonia (HP:0001290); clubfeet; unusual gluteal crease with sacral caudal remnant/sacral dimple (abnormal sacral segmentatino, HP:0008468), prominent protruding coccyx (HP:0008472); talipes cavus equinovarus (HP:0004696); spasticity (HP:0001257); short digit (HP:0011927); short neck (HP:0000470); secundum ASD at birth, enlarged ascending aorta and MPA; intellectual disability (HP:0001249); low set nipples, short stature; not present -HP:0000389; post dates, birth 42w, weight 2840, height 50.8 1 1 Johan den Dunnen
00054905 - Journal: O'Rawe 2015 2-generation family, 1 affected, unaffected heterozygous carrier mother M - Ecuador - >3y - - - ID respiratory & feeding issues; postnatal growth retardation (HP:0008897); delayed gross motor development (HP:0002194); delayed speech and language development (HP:0000750); oral-pharyngeal dysphagia (HP:0200136); downslanted palpebral fissures (HP:0000494); deeply-set eye (HP:0000490); prominent forehead (HP:0011220); sagging cheeks; long philtrum (HP:0000343); low-set ears (HP:0000369); protruding ear (HP:0000411); thickened helices (large earlobe HP:0009748); long face (HP:0000276); high arched palate (high palate HP:0000218); pointed chin (HP:0000307); broad upturned nose (anteverted nares HP:0000463); bulbous nasal tip (bulbous nose HP:0000414); depigmentation (depigmentation/hyperpigmentation of skin HP:0007483); aplasia cutis congenita (HP:0001057); hearing impairment (HP:0000365); chromic otitis media (HP:0000389); strabismus (HP:0000486); mild ventriculomegaly (HP:0002119); cerebellar atrophy, decreased white matter (cerebral white matter atrophy HP:0012762); hypoplasia of the corpus callosum (HP:0002079), posterior>anterior; generalized hypotonia (HP:0001290); low deep tendon reflexes (reduced tendon reflexes) HP:0001315); N/A; unusual gluteal crease with sacral caudal remnant/sacral dimple (abnormal sacral segmentatino, HP:0008468), prominent protruding coccyx (HP:0008472); finger distal joint hypermobility (HP:0001382); thoracic case deformities; pectus excavatum (HP:0000767); frequent cough; cryptorchidism (HP:0000028); ptosis (HP:0000508), vertical talus (rocker bottom foot HP:0001838); not present -HP:0000219, -HP:0000252, -HP:0000308, -HP:0000316, -HP:0000336, -HP:0000470, -HP:0000496, -HP:0000579, -HP:0000639, -HP:0000664, -HP:0000960, -HP:0000964, -HP:0001007, -HP:0001250, -HP:0001251, -HP:0001264, -HP:0001320, -HP:0001337, -HP:0002019, -HP:0002020, -HP:0002141, -HP:0002650, -HP:0002808, -HP:0004696, -HP:0005469, -HP:0007375, -HP:0008070, -HP:0011927, -HP:0100797; nuchal cord (HP:0012498), birth 36w, caesarian section (HP:0011410), weight 2270 1 1 Johan den Dunnen
00054906 - Journal: O'Rawe 2015 2-generation family, 1 affected M - France European >22y - - - ID intrauterine growth retardation (HP:0001511); delayed gross motor development (HP:0002194); delayed speech and language development (HP:0000750); prominent supraorbital ridges (HP:0000336); downslanted palpebral fissures (HP:0000494); deeply-set eye (HP:0000490); low-set ears (HP:0000369); thickened helices (large earlobe HP:0009748); long face (HP:0000276); high arched palate (high palate HP:0000218); microretrognathia (HP:0000308); pointed chin (HP:0000307); depigmentation (depigmentation/hyperpigmentation of skin HP:0007483); strabismus (HP:0000486); myopia (HP:0000545); UK; UK; hypoplasia of the corpus callosum (HP:0002079), dysgenesis with periventricular nodular heterotopia; generalized hypotonia (HP:0001290); gait abnormalities (gait disturbance HP:0001288); balance problem (gait imbalance HP:0002141); ataxia (HP:0001251), mild; sleep-wake cycle disturbance (HP:0006979); unusual gluteal crease with sacral caudal remnant/sacral dimple (abnormal sacral segmentatino, HP:0008468), prominent protruding coccyx (HP:0008472); thoracic case deformities, major scoliosis requiring surgery; severe bradykinesia and flessum of large joints; scoliosis (HP:0002650), major scoliosis requiring surgery; short neck (HP:0000470); tracheotomy; autistic behaviors (HP:0000729), stereotypies; anxiety (HP:0000739); intellectual disability (HP:0001249); NA; periventricular nodular heterotopias, long and thin habitus with arachnodactyly, facial asymetria, rigidity; not present -HP:0000463, -HP:0000219, -HP:0000252, -HP:0000316, -HP:0000343, -HP:0000365, -HP:0000389, -HP:0000411, -HP:0000414, -HP:0000496, -HP:0000579, -HP:0000639, -HP:0000664, -HP:0000767, -HP:0000964, -HP:0001007, -HP:0001057, -HP:0001250, -HP:0001264, -HP:0001320, -HP:0001337, -HP:0001382, -HP:0002119, -HP:0002808, -HP:0004696, -HP:0005469, -HP:0007375, -HP:0008070, -HP:0008897, -HP:0011220, -HP:0011927, -HP:0100797; birth 41w, weight 2500, height 45, OFC 33.5 1 1 Johan den Dunnen
00054907 - Journal: O'Rawe 2015 2-generation family, 1 affected M - United Kingdom (Great Britain) - >11y - - - ID vomiting, failure to thrive, marked feeding problems, Gastroesophageal reflux; intrauterine growth retardation (HP:0001511); +walked 2y; delayed speech and language development (HP:0000750), 2-word phrases at 25mo but unclear; long philtrum (HP:0000343); thickened helices (large earlobe HP:0009748); vomiting, failure to thrive, marked feeding problems, Gastroesophageal reflux; broad upturned nose (anteverted nares HP:0000463); bulbous nasal tip (bulbous nose HP:0000414); flat occiput (HP:0005469); synophrys (HP:0000664); hypertelorism (HP:0000316); chromic otitis media (HP:0000389); pale skin; constipation (HP:0002019), ixed; gastroesophageal reflux (HP:0002020); microcephaly (HP:0000252); not now; + as baby unusual gluteal crease with sacral caudal remnant/sacral dimple (abnormal sacral segmentatino, HP:0008468), prominent protruding coccyx (HP:0008472), now resolved; toes short digit (HP:0011927); tracheolaryngomalacia, laser aryepiglottopexy; aberrant innominate artery, atrial septal defect; autistic behaviors (HP:0000729); anxiety (HP:0000739); intellectual disability (HP:0001249); N/A; marked sensory aversions, hyperacusis, narrow extrenal ear canals, fetal finger pads, hypoplastic nipples, delayed loss of primary dentition; not present -HP:0000486, -HP:0000218, -HP:0000276, -HP:0000307, -HP:0000308, -HP:0000336, -HP:0000365, -HP:0000369, -HP:0000411, -HP:0000470, -HP:0000490, -HP:0000494, -HP:0000496, -HP:0000545, -HP:0000579, -HP:0000639, -HP:0000767, -HP:0000960, -HP:0000964, -HP:0001007, -HP:0001057, -HP:0001250, -HP:0001251, -HP:0001257, -HP:0001264, -HP:0001315, -HP:0001337, -HP:0001382, -HP:0002141, -HP:0002650, -HP:0002808, -HP:0004696, -HP:0006979, -HP:0007018, -HP:0007483, -HP:0008070, -HP:0008897, -HP:0011220, -HP:0100797, -HP:0200136; none at delivery. Maternal SPD and morning sickness in pregnancy, 40w, weight 2530 (0.4), OFC 32.1 (0.4) 1 1 Johan den Dunnen
00054908 - Journal: O'Rawe 2015 2-generation family, 3 affected brothers, unaffected heterozygous carrier mother M - Colombia - >9y - - - ID seizures (4 hours after birth), lactic acidosis.; postnatal growth retardation (HP:0008897); delayed gross motor development (HP:0002194); delayed speech and language development (HP:0000750); oral-pharyngeal dysphagia (HP:0200136); prominent supraorbital ridges (HP:0000336); downslanted palpebral fissures (HP:0000494); prominent forehead (HP:0011220); sagging cheeks; long philtrum (HP:0000343); low-set ears (HP:0000369); protruding ear (HP:0000411); thickened helices (large earlobe HP:0009748); long face (HP:0000276); high arched palate (high palate HP:0000218); thin upper lip (thin upper lip vermilion HP:0000219); pointed chin (HP:0000307); broad upturned nose (anteverted nares HP:0000463); hypertelorism (HP:0000316); sacral dimple (HP:0000960); hirsutism (HP:0001007); frequent dermatitis & eczema (eczema HP:0000964); toenail dysplasia (HP:0100797); hearing impairment (HP:0000365); chromic otitis media (HP:0000389); strabismus (HP:0000486); constipation (HP:0002019); gastroesophageal reflux (HP:0002020); microcephaly (HP:0000252); cerebellar atrophy (low cerebral white matter volume); hypoplasia of the corpus callosum (HP:0002079); seizures (HP:0001250); generalized hypotonia (HP:0001290); non-ambulatory; sleep-wake cycle disturbance (HP:0006979); osteopenia (HP:0000938); unusual gluteal crease with sacral caudal remnant/sacral dimple (abnormal sacral segmentatino, HP:0008468), prominent protruding coccyx (HP:0008472); distal joint hypermobility (HP:0001382); kyphosis (HP:0002808); scoliosis (HP:0002650); short neck (HP:0000470); hydronephrosis; autistic behaviors (HP:0000729); intellectual disability (HP:0001249); not present -HP:0000490, -HP:0000496, -HP:0000579, -HP:0000739, -HP:0001057, -HP:0001251, -HP:0001257, -HP:0001264, -HP:0001511, -HP:0002119, -HP:0002141, -HP:0007018, -HP:0007375; birth 36w, caesarian section (HP:0011410), weight 4480 (1.85), height 52 (0.48), OFC 36.5 (1.02) 1 3 Johan den Dunnen
00054909 - Journal: O'Rawe 2015 2nd brother of Fam8Pat8A M - Colombia - >04y - - - ID seizures (2 hours after birth), lactic acidosis.; postnatal growth retardation (HP:0008897); delayed gross motor development (HP:0002194); delayed speech and language development (HP:0000750); oral-pharyngeal dysphagia (HP:0200136); prominent supraorbital ridges (HP:0000336); downslanted palpebral fissures (HP:0000494); prominent forehead (HP:0011220); sagging cheeks; long philtrum (HP:0000343); low-set ears (HP:0000369); protruding ear (HP:0000411); thickened helices (large earlobe HP:0009748); long face (HP:0000276); high arched palate (high palate HP:0000218); thin upper lip (thin upper lip vermilion HP:0000219); pointed chin (HP:0000307); broad upturned nose (anteverted nares HP:0000463); hypertelorism (HP:0000316); hirsutism (HP:0001007); frequent dermatitis & eczema (eczema HP:0000964); toenail dysplasia (HP:0100797); hearing impairment (HP:0000365); chromic otitis media (HP:0000389); constipation (HP:0002019); gastroesophageal reflux (HP:0002020); microcephaly (HP:0000252); cerebellar atrophy (low cerebral white matter volume); hypoplasia of the corpus callosum (HP:0002079); seizures (HP:0001250); generalized hypotonia (HP:0001290); non-ambulatory; sleep-wake cycle disturbance (HP:0006979); osteopenia (HP:0000938); unusual gluteal crease with sacral caudal remnant/sacral dimple (abnormal sacral segmentatino, HP:0008468), prominent protruding coccyx (HP:0008472); distal joint hypermobility (HP:0001382); kyphosis (HP:0002808); scoliosis (HP:0002650); short neck (HP:0000470); hydronephrosis; autistic behaviors (HP:0000729); intellectual disability (HP:0001249); not present -HP:0000486, -HP:0000490, -HP:0000496, -HP:0000579, -HP:0000739, -HP:0000960, -HP:0001057, -HP:0001251, -HP:0001257, -HP:0001264, -HP:0001511, -HP:0002119, -HP:0002141, -HP:0007018, -HP:0007375; oligohydramnios, birth 37w, weight 3000 (-1.16), height 49 (-1.02), OFC 33 (-1.73) 1 1 Johan den Dunnen
00054910 - Journal: O'Rawe 2015 brother of Fam8Pat8A M - Colombia - >11y - - - ID seizures (24 hours after birth), lactic acidosis, hypoglycemia.; postnatal growth retardation (HP:0008897); delayed gross motor development (HP:0002194); delayed speech and language development (HP:0000750); oral-pharyngeal dysphagia (HP:0200136); prominent supraorbital ridges (HP:0000336); downslanted palpebral fissures (HP:0000494); deeply-set eye (HP:0000490); prominent forehead (HP:0011220); sagging cheeks; long philtrum (HP:0000343); low-set ears (HP:0000369); protruding ear (HP:0000411); thickened helices (large earlobe HP:0009748); long face (HP:0000276); high arched palate (high palate HP:0000218); thin upper lip (thin upper lip vermilion HP:0000219); pointed chin (HP:0000307); broad upturned nose (anteverted nares HP:0000463); hypertelorism (HP:0000316); sacral dimple (HP:0000960); hirsutism (HP:0001007); frequent dermatitis & eczema (eczema HP:0000964); toenail dysplasia (HP:0100797); hearing impairment (HP:0000365); chromic otitis media (HP:0000389); constipation (HP:0002019); gastroesophageal reflux (HP:0002020); microcephaly (HP:0000252); cerebellar atrophy (low cerebral white matter volume); hypoplasia of the corpus callosum (HP:0002079); seizures (HP:0001250); generalized hypotonia (HP:0001290); non-ambulatory; sleep-wake cycle disturbance (HP:0006979); osteopenia (HP:0000938); unusual gluteal crease with sacral caudal remnant/sacral dimple (abnormal sacral segmentatino, HP:0008468), prominent protruding coccyx (HP:0008472); distal joint hypermobility (HP:0001382); kyphosis (HP:0002808); scoliosis (HP:0002650); short neck (HP:0000470); autistic behaviors (HP:0000729); intellectual disability (HP:0001249); not present -HP:0000486, -HP:0000496, -HP:0000579, -HP:0000739, -HP:0001057, -HP:0001251, -HP:0001257, -HP:0001264, -HP:0001511, -HP:0002119, -HP:0002141, -HP:0007018, -HP:0007375; oligohydramnios, birth 37w, weight 3530 (-0.049), height 50.5 (-0.27), OFC 33 (-1.73) 1 1 Johan den Dunnen
00054911 - Journal: O'Rawe 2015 2-generation family, 1 affected M - Spain - 3y - - - ID low birth weight (small for gestational age HP:0001518); intrauterine growth retardation (HP:0001511); postnatal growth retardation (HP:0008897); delayed gross motor development (HP:0002194); N/A; prominent supraorbital ridges (HP:0000336); sagging cheeks; long philtrum (HP:0000343); low-set ears (HP:0000369); long face (HP:0000276); high arched palate (high palate HP:0000218); microretrognathia (HP:0000308); broad upturned nose (anteverted nares HP:0000463); bulbous nasal tip (bulbous nose HP:0000414); synophrys (HP:0000664); sparse hair (HP:0008070); depigmentation (depigmentation/hyperpigmentation of skin HP:0007483); aplasia cutis congenita (HP:0001057); hirsutism (HP:0001007); toenail dysplasia (HP:0100797),f ragile nails (HP:0001808); strabismus (HP:0000486); pseudoalbinism; constipation (HP:0002019); microcephaly (HP:0000252); hypoplasia of the corpus callosum (HP:0002079), dffuse; deficiency of the falx cerebri; generalized hypotonia (HP:0001290, axial), infantile axial hypotonia (HP:0009062); N/A; N/A; N/A; unusual gluteal crease with sacral caudal remnant/sacral dimple (abnormal sacral segmentatino, HP:0008468), prominent protruding coccyx (HP:0008472); joint hypermobility (HP:0001382); thoracic case deformities; spasticity (HP:0001257); pectus excavatum (HP:0000767); scoliosis (HP:0002650); short neck (HP:0000470); atrial septal defect (HP:0001631), aortic coarctation (HP:0001680), pulmonary hypertension (HP:0002092).; cryptorchidism (HP:0000028); intellectual disability (HP:0001249); 3y-dies from respiratory failure (HP:0004887) caused by pulmonary infection; not present -HP:0000219, -HP:0000307, -HP:0000316, -HP:0000365, -HP:0000389, -HP:0000411, -HP:0000490, -HP:0000494, -HP:0000639, -HP:0000729, -HP:0000739, -HP:0000960, -HP:0000964, -HP:0001250, -HP:0001320, -HP:0001337, -HP:0002020, -HP:0002119, -HP:0002808, -HP:0004696, -HP:0005469, -HP:0006979, -HP:0007018, -HP:0007375, -HP:0009748, -HP:0011220, -HP:0011927; increased nuchal translucency (HP:0010880), 37w, weight 1690g (<3rd), height 45 (10-25th), OFC 28 (<3rd) 1 1 Johan den Dunnen
00054912 - Journal: O'Rawe 2015 4-generation family, 6 affected, 5 unaffected heterozygous carrier females M - Albania - >16y - - - ID delayed gross motor development (HP:0002194); delayed speech and language development (HP:0000750); oral-pharyngeal dysphagia (HP:0200136); prominent supraorbital ridges (HP:0000336); downslanted palpebral fissures (HP:0000494); deeply-set eye (HP:0000490); sagging cheeks; long face (HP:0000276); high arched palate (high palate HP:0000218); thin upper lip (thin upper lip vermilion HP:0000219); pointed chin (HP:0000307); bulbous nasal tip (bulbous nose HP:0000414); strabismus (HP:0000486); myopia (HP:0000545); mild ventriculomegaly (HP:0002119); cerebellar atrophy; hypoplasia of the cerebellar vermis (HP:0001320); low deep tendon reflexes (reduced tendon reflexes) HP:0001315); gait abnormalities (gait disturbance HP:0001288); balance problem (gait imbalance HP:0002141); diplegia (spastic diplegia HP:0001264); autistic behaviors (HP:0000729); attention deficit hyperactivity disorder (HP:0007018); anxiety (HP:0000739); intellectual disability (HP:0001249); N/A; brain: periventricular white matter gliosis; not present -HP:0000463, -HP:0000252, -HP:0000308, -HP:0000316, -HP:0000343, -HP:0000369, -HP:0000411, -HP:0000470, -HP:0000639, -HP:0000664, -HP:0000767, -HP:0001007, -HP:0001057, -HP:0001250, -HP:0001257, -HP:0001290, -HP:0001337, -HP:0001382, -HP:0001511, -HP:0002650, -HP:0002808, -HP:0004696, -HP:0007375, -HP:0007483, -HP:0008070, -HP:0009748, -HP:0011220, -HP:0011927; full term, weight 2850 (<10th) 1 6 Johan den Dunnen
00054913 - Journal: O'Rawe 2015 2-generation family, 1 affected M - Greece - 8y - - - ID neonatal jaundice; postnatal growth retardation (HP:0008897); delayed gross motor development (HP:0002194); delayed speech and language development (HP:0000750); oral-pharyngeal dysphagia (HP:0200136); prominent supraorbital ridges (HP:0000336); deeply-set eye (HP:0000490); sagging cheeks; low-set ears (HP:0000369); protruding ear (HP:0000411); long face (HP:0000276); high arched palate (high palate HP:0000218); pointed chin (HP:0000307); broad upturned nose (anteverted nares HP:0000463); mild ventriculomegaly (HP:0002119); cerebellar atrophy; tremor (HP:0001337); generalized hypotonia (HP:0001290), postural; low deep tendon reflexes (reduced tendon reflexes) HP:0001315); non-ambulatory; diplegia (spastic diplegia HP:0001264); thoracic case deformities; spasticity (HP:0001257); kyphosis (HP:0002808); scoliosis (HP:0002650); autistic behaviors (HP:0000729); intellectual disability (HP:0001249); 8y-dies from infection, cardiopulmonary insufficiency; not present -HP:0000486, -HP:0000219, -HP:0000252, -HP:0000308, -HP:0000316, -HP:0000343, -HP:0000365, -HP:0000389, -HP:0000414, -HP:0000470, -HP:0000496, -HP:0000545, -HP:0000579, -HP:0000639, -HP:0000664, -HP:0000767, -HP:0000938, -HP:0001007, -HP:0001057, -HP:0001250, -HP:0001251, -HP:0001511, -HP:0002079, -HP:0005469, -HP:0007375, -HP:0007483, -HP:0008070, -HP:0008472, -HP:0009748, -HP:0011927, -HP:0100797; umbilical cord entrapment (abnormality of the umbilical cord HP:0010881), birth 38w, caesarian section (HP:0011410), weight 2830 (10th), height 49 (25th), OFC 34 (25th) 1 1 Johan den Dunnen
00065219 26637982-Fam1PatA PubMed: O'Rawe 2016, Journal: O'Rawe 2016 3-generation family, 2 affected brothers, unaffected heterozygous carrier mother M no United States European >15y - - - ID Postnatal growth retardation (HP:0008897), Delayed gross motor development (HP:0002194), Delayed speech and language development (HP:0000750), Oral-pharyngeal dysphagia (HP:0200136), Prominent supraorbital ridges (HP:0000336), Downslanted palpebral fissures (HP:0000494), Sagging cheeks (HP:?), Long philtrum (HP:0000343), Low-set ears (HP:0000369), Protruding ears (HP:0000411), Long face (HP:0000276), Pointed chin (HP:0000307), No anteverted nares (-HP:0000463), Hearing impairment (HP:0000365), Chromic otitis media (HP:0000389), Strabismus (HP:0000486), Microcephaly (HP:0000252), Hypoplasia of the corpus callosum (HP:0002079), Generalized hypotonia (HP:0001290), Unusual gluteal crease with sacral caudal remnant and sacral dimple (abnormal sacral segmentation [HP:0008468] and prominent protruding coccyx [HP:0008472]), Joint hypermobility (HP:0001382), Autistic behaviors (HP:0000729), Intellectual disability (HP:0001249); intellectual disability (HP:0001249); global developmental delay (HP:0001263); speech delay (HP:0000750) 1 2 Jamie Zeegers
00065221 26637982-Fam1PatB PubMed: O'Rawe 2016, Journal: O'Rawe 2016 Family, 2-affected brothers, 1B M no - European >13y - - - ID Postnatal growth retardation (HP:0008897), Delayed gross motor development (HP:0002194), Delayed speech and language development (HP:0000750), Oral-pharyngeal dysphagia (HP:0200136), Prominent supraorbital ridges (HP:0000336), Downslanted palpebral fissures (HP:0000494), Sagging cheeks (HP:?), Long philtrum (HP:0000343), Low-set ears (HP:0000369), Protruding ears (HP:0000411), Long face (HP:0000276), Pointed chin (HP:0000307), no anteverted nares (-HP:0000463), Hearing impairment (HP:0000365), Chromic otitis media (HP:0000389), Strabismus (HP:0000486), Microcephaly (HP:0000252), Hypoplasia of the corpus callosum (HP:0002079), Generalized hypotonia (HP:0001290), Unusual gluteal crease with sacral caudal remnant and sacral dimple (abnormal sacral segmentation [HP:0008468] and prominent protruding coccyx [HP:0008472]), Joint hypermobility (HP:0001382), Autistic behaviors (HP:0000729), Intellectual disability (HP:0001249); intellectual disability (HP:0001249); global developmental delay (HP:0001263); speech delay (HP:0000750) 1 1 Jamie Zeegers
00065223 26637982-Fam2PatA PubMed: O'Rawe 2016, Journal: O'Rawe 2016 2-generation family, 1 affected, unaffected non-carrier parents M no - European >05y - - - ID Postnatal growth retardation (HP:0008897), Delayed gross motor development (HP:0002194), Delayed speech and language development (HP:0000750), Oral-pharyngeal dysphagia (HP:0200136), No prominent supraorbital ridges (-HP:0000336), Downslanted palpebral fissures (HP:0000494), No sagging cheeks (-HP:?), Long philtrum (HP:0000343), Low-set ears (HP:0000369), Protruding ears (HP:0000411), No long face (-HP:0000276), High palate (HP:0000218), No pointed chin (-HP:0000307), Anteverted nares (HP:0000463), Hearing impairment (HP:0000365), Chromic otitis media (HP:0000389), Strabismus (HP:0000486), Microcephaly (HP:0000252), Hypoplasia of the corpus callosum (HP:0002079), Generalized hypotonia (HP:0001290), Unusual gluteal crease with sacral caudal remnant and sacral dimple (abnormal sacral segmentation [HP:0008468] and prominent protruding coccyx [HP:0008472]), No joint hypermobility (-HP:0001382), Autistic behaviors (HP:0000729), Intellectual disability (HP:0001249); intellectual disability (HP:0001249); global developmental delay (HP:0001263); speech delay (HP:0000750) 1 1 Jamie Zeegers
00065224 26637982-Fam3PatA PubMed: O'Rawe 2016, Journal: O'Rawe 2016 2-generation family, 1 affected, unaffected non-carrier parents M no - European >06y - - - ID Postnatal growth retardation (HP:0008897), Delayed gross motor development (HP:0002194), Delayed speech and language development (HP:0000750), Oral-pharyngeal dysphagia (HP:0200136), Prominent supraorbital ridges (HP:0000336), No downslanted palpebral fissures (-HP:0000494), No sagging cheeks (-HP:?), Long philtrum (HP:0000343), Low-set ears (HP:0000369), Protruding ears (HP:0000411), No long face (-HP:0000276), High palate (HP:0000218), No pointed chin (-HP:0000307), Anteverted nares (HP:0000463), Hearing impairment (HP:0000365), No chromic otitis media (-HP:0000389), Strabismus (HP:0000486), Microcephaly (HP:0000252), Generalized hypotonia (HP:0001290), Unusual gluteal crease with sacral caudal remnant and sacral dimple (abnormal sacral segmentation [HP:0008468] and prominent protruding coccyx [HP:0008472]), No joint hypermobility (HP:0001382), Autistic behaviors (HP:0000729), Intellectual disability (HP:0001249); intellectual disability (HP:0001249); global developmental delay (HP:0001263); speech delay (HP:0000750) 1 1 Jamie Zeegers
00065225 26637982-Fam4PatA PubMed: O'Rawe 2016, Journal: O'Rawe 2016 2-generation family, 1 affected, unaffected non-carrier parents M no - European >09y - - - ID - 1 1 Jamie Zeegers
00065227 26637982-Fam5PatA PubMed: O'Rawe 2016, Journal: O'Rawe 2016 2-generation family, 1 affected, unaffected heterozygous carrier mother M no Ecuador Ecuadorian >03y - - - ID - 1 1 Jamie Zeegers
00065228 26637982-Fam6PatA PubMed: O'Rawe 2016, Journal: O'Rawe 2016 2-generation family, 1 affected, unaffected non-carrier parents M no - European >22y - - - ID - 1 1 Jamie Zeegers
00065229 26637982-Fam7PatA PubMed: O'Rawe 2016, Journal: O'Rawe 2016 2-generation family, 1 affected, unaffected non-carrier parents M no United Kingdom (Great Britain) British >11y - - - ID No postnatal growth retardation (-HP:0008897), Delayed gross motor development (HP:0002194), Delayed speech and language development (HP:0000750), No oral-pharyngeal dysphagia (-HP:0200136), No prominent supraorbital ridges (-HP:0000336), No downslanted palpebral fissures (-HP:0000494), No sagging cheeks (-HP:?), Long philtrum (HP:0000343), No low-set ears (-HP:0000369), No protruding ears (-HP:0000411), No long face (-HP:0000276), No high palate (-HP:0000218), No pointed chin (-HP:0000307), Anteverted nares (HP:0000463), No hearing impairment (-HP:0000365), Chromic otitis media (HP:0000389), No strabismus (-HP:0000486), Microcephaly (HP:0000252), No generalized hypotonia (-HP:0001290), Unusual gluteal crease with sacral caudal remnant and sacral dimple (abnormal sacral segmentation [HP:0008468] and prominent protruding coccyx [HP:0008472]), No joint hypermobility (-HP:0001382), Autistic behaviors (HP:0000729), Intellectual disability (HP:0001249); intellectual disability (HP:0001249); global developmental delay (HP:0001263); speech delay (HP:0000750) 1 1 Jamie Zeegers
00101203 26637982-Fam8PatA/B/C PubMed: O'Rawe 2016, Journal: O'Rawe 2016 2-generation family, 3 affected brothers, unaffected heterozygous carrier mother M no Colombia - - - - - ID see paper; ... 1 3 Johan den Dunnen
00101204 26637982-Fam9PatA PubMed: O'Rawe 2016, Journal: O'Rawe 2016 2-generation family, 1 affected, unaffected non-carrier parents M no Spain Spanish - - - - ID see paper; ... 1 1 Johan den Dunnen
00101205 26637982-Fam10PatA PubMed: O'Rawe 2016, Journal: O'Rawe 2016 2-generation family, 5 affected males, unaffected heterozygous carrier mothers M no Albania - - - - - ID see paper; ..., prominent supraorbital ridges, down-slanted palpebral fissures, sagging cheeks, long face, high palate, pointed chin 1 5 Johan den Dunnen
00101206 26637982-Fam11PatA PubMed: O'Rawe 2016, Journal: O'Rawe 2016 2-generation family, 1 affected, unaffected non-carrier parents M no Greece - - - - - ID see paper; ... 1 1 Johan den Dunnen
00183188 25644381-FamN67 PubMed: Hu 2016 family, 2 affected, 2 unaffected heterozygous carrier females M - - - - - - - MRX;IDX mild to severe ID, facial features 1 2 Johan den Dunnen
00183189 25644381-FamD185 PubMed: Hu 2016 family, 2 affected, 7 unaffected heterozygous carrier females M - - - - - - - MRX;IDX - 1 2 Johan den Dunnen
00183665 27620904-Pat10 PubMed: Martinez 2017, Journal: Martinez 2017 - - - Spain - - - - - ID - 1 1 Johan den Dunnen
00334783 - PubMed: Maranhao 2015 analysis 25 Pedigrees - - Pakistan - - - - - retinal disease - 1 6 LOVD
00334784 - PubMed: Maranhao 2015 analysis 25 Pedigrees - - Pakistan - - - - - retinal disease - 1 7 LOVD
00361669 15DG2406 PubMed: Anazi 2017 familial M yes Saudi Arabia - - - - - ID syndromic; global developmental delay, small for age, dysmorphism, strabismus, hypotonia, kyphosis 1 1 Johan den Dunnen
00387706 M040 PubMed: Hu 2019 family, 3 affected individuals, third cousin parents - yes Iran Persia - - - - ID syndromic intellectual disability, no microcephaly 1 3 Johan den Dunnen
00431534 213999 - - M ? Turkey - - - - - MRXS33 Coloboma, Microcephaly, Pendular nystagmus, Delayed speech and language development, Autistic behavior 1 1 Andreas Laner
00438618 HSC0091 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - 1 1 Johan den Dunnen
00453440 - - - M - - (not applicable) white - - - - seizures HP: 0001250), HP:0011097, HP:0002376 1 1 Marketa Wayhelova
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