All individuals with variants in gene ARID2

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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) 1 1 Yu Sun
00104036 Vogelaar-759A PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - - - - cancer, gastric diffuse-type or intestinal-type gastric cancer 1 1 Marjolijn JL Ligtenberg
00174068 Ind1 PubMed: Bramswig 2017 - - - - - - - - - CSS short stature (-2.14 SD); developmental delay; slightly coarse features, tall forehead, hypertelorism, depressed nasal root and short nose, prominent and long philtrum, and thin upper lip; nail hypoplasia of fifth finger and toe nails, small hands with tapering fingers, small feet, single palmar crease; Wide inner and outer cerebrospinal fluid spaces, dorsal vermis hypoplasia, wide cisterna magna (Dandy–Walker formation), thin corpus callosum; Hypotonia, Seizure, inguinal hernia 1 1 Julia Lopez
00174069 Ind2 PubMed: Bramswig 2017 - - - - - - - - - CSS no intrauterine growth retardation; short stature (-2.2 SD); developmental delay; difficulties tracking moving target with jerky eye movements, repeated loss of fixation; slightly coarse features, midface hypoplasia, normal spacing of eyes, horizontal palpebral fissures, small, upturned nose, Cupid’s bow, full lower lip; tapering fingers, small nails, bilateral clinodactyly 5th finger; Mild hypotonia, umbilical hernia 1 1 Julia Lopez
00174070 1 PubMed: Shang L 2015 - F - - - - - - - ID intrauterine growth retardation (weight 5th percentile, height unknown); short stature (<5th percentile); developmental delay; micrognathia or retrognathia, low set or posteriorly rotated ears, epicanthal folds, down slanting palpebral fissures, highly arched palate, and frontal bossing; no cardiac defects; Wormian bones, kyphoscoliosis; normal skin; Hypotonia, ADHD, anxiety 1 1 Julia Lopez
00174071 2 PubMed: Shang L 2015 - F - - - - - - - ID no intrauterine growth retardation ( weight 25-50 percentile, height 50th percentile); no short stature (10th percentile); developmental delay; micrognathia or retrognathia, low set or posteriorly rotated ears, epicanthal folds, down slanting palpebral fissures, highly arched palate, and frontal bossing, cleft palate; Atrial septal defect; ADHD, aggressive, diaphragmatic eventration 1 1 Julia Lopez
00174072 3 PubMed: Shang L 2015 - M - - - - - - - ID no intrauterine growth retardation (weight 25th percentile, height 50th percentile); no short stature (10th percentile); developmental delay; plagiocephaly; micrognathia or retrognathia, low set or posteriorly rotated ears, epicanthal folds, down slanting palpebral fissures, highly arched palate, frontal bossing; no cardiac defects; mild prominence ventricles, sulci, small arachnoid cyst; affinity for water, sensitive to loud noises, GERD 1 1 Julia Lopez
00174073 4 PubMed: Shang L 2015 - F - - - - - - - ID no intrauterine growth retardation (weight 20-25 percentile, height unknown); short stature (<5th percentile); developmental delay; plagiocephaly; micrognathia or retrognathia, low set or posteriorly rotated ears, epicanthal folds, down slanting palpebral fissures, highly arched palate, frontal bossing; mild pectus excavatum; no cardiac defects; wormian bones; Mild periventricular white mmatter signals; Hypotonia, ADHD, tics, GERD 1 1 Julia Lopez
00290699 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 8 Mohammed Faruq
00290700 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00362197 patient PubMed: Van Paemel 2017 2-generation family, 1 affected, unaffected non-carrier parents F - Belgium - - - - - ID see paper; ..., short stature, hypotonia, decreased scalp hair, no body hirsutism; coarse facies, no thick eyebrows, no prominent eyelashes, no flat nasal bridge, no short nose, no anteverted nares, broad nasal tip, wide nasal base, no thick alae nasi, prominent philtrum, no wide mouth, micrognathia, retrognathia, no low set ears, downslanting palpebral fissure, no highly arched palate, high forehead, thick upper lip vermilion, thick lower lip vermilion; small nails on 5th digit, clinodactyly, delayed bone age, brachydactyly; cognitive delay; attention deficit hyperactivity disorder, sensitivity to loud noise; strabismus, no myopia, hypermetropia, no ptosis 1 1 Johan den Dunnen
00377148 180573 - - F - - - - - - - CSS6 Abnormality of body height, Abnormality of the face, Downslanted palpebral fissures, Global developmental delay, Growth delay, Abnormal foot morphology, Pes cavus, Abnormal facial shape, Curly hair, Short stature, Abnormality of hair texture, Abnormality of higher mental function, Thyrotoxicosis with diffuse goiter, Neurodevelopmental delay, Cognitive impairment, Graves disease, Slanting of the palpebral fissure 1 1 Andreas Laner
00390711 patient PubMed: Kang 2021 no family history F - Korea - - - - - NDD intrauterine growth retardation; short stature (-3.68 SD); mild developmental delay; microcephaly; strabismus, myopia; Horizontal palpebral fissure, hypertelorism, epicanthal folds, high arched palate, low-set ears; low posterior hair line; no abnormalities chest; Ventricular septal defect; Bilateral simian crease; sparse hair, ichthyosis; Juvenile rheumatoid arthritis 1 1 Johan den Dunnen
00390712 patient PubMed: Failla 2008 no family history M - Italy - - - - - NDD intrauterine growth retardation; short stature (-2 SD); moderate developmental delay; microbrachycephaly; strabismus, myopia, Duane anomaly; Horizontal palpebral fissures, broad nose, long philtrum, low set ears, high arched palate; webbed neck, low posterior hair line; widely-spaced nipples; cryptorchidism; Bilateral 5th finger clinodactyly, single palmar crease, multiple epiphyseal dysplasia; hyperkeratotic skin; Sensorineural hearing loss 1 1 Johan den Dunnen
00390713 patient PubMed: Tonoki 1998 no family history M - Japan - - - - - NDD intrauterine growth retardation; short stature (<-3 SD); severe developmental delay; microcephaly; strabismus, blepharoptosis; Bilateral ptosis, hypertelorism, down slanting palpebral fissures, epicanthus, long philtrum, micrognathia, high-arched palate, cleft palate, low-set ears; Short, webbing, low posterior hair line; widely-spaced nipples, pectus excavatum; no cardiac defects; cryptorchidism; Socliosis, bilateral 5th finger clinodactyly, overlapping 2nd and 3rd toes; normal skin; Sensorineural hearing loss 1 1 Johan den Dunnen
00390714 patient Gallego 2000 (Int Pediatr 15: 37) no family history M - - - - - - - NDD no intrauterine growth retardation; short stature (-3 SD); developmental delay; prominent metopic ridge; strabismus, myopia, congenital fibrosis of the extraocular muscles; Broad forehead, Upslanting palpebral fissures, short-broad nose with anteverted nostril, small mouth, low-set ears, high arched palate; widely-spaced nipples; no cryptorchidism; Bilateral 5th finger clinodactyly, syndactyly of 2nd and 3rd toes; normal skin 1 1 Johan den Dunnen
00390715 FamPat1 PubMed: Yatsenko 2009 2-generation family, 2 affected sibs F - United States - - - - - NDD no intrauterine growth retardation; short stature (-2.2 SD); moderate developmental delay; relative macrocephaly, prominent forehead; strabismus, myopia; Hypertelorism, downslanting palpebral fissures, bilateral ptosis, sparse eyebrows, low and posteriorly rotated ears, mild micrognathia; Short, webbing, low posterior hair line; widely-spaced nipples; Pulmonic stenosis; Cubitus valgus, mild scoliosis, brachydactyly with hyperlaxity of joints, overlapping1st and 2nd toes; multiple nevi; Bifid renal pelvis with vesicoureteral reflux 1 2 Johan den Dunnen
00390716 FamPat2 PubMed: Yatsenko 2009 sister F - United States - - - - - NDD no intrauterine growth retardation; no short stature (10-25th centile); mild developmental delay; relative macrocephaly, prominent forehead; Astigmatism, myopia; Hypertelorism, ptosis, downslanting palpebral fissures, high-arched palate, thick lips, micrognathia, low-set and posteriorly rotated ears,; short neck, webbing, low posterior hair line; widely-spaced nipples, pectus excavatum; no cardiac defects; Cubitus valgus, hyperlax fingers; normal skin; Celiac disease 1 1 Johan den Dunnen
00390717 patient PubMed: Weng 2018 - F - China - - - - - NDD no intrauterine growth retardation (weight 50-75th percentile, height <3rd percentile); short stature( < 3rd percentile); developmental delay; microcephaly; blue sclera; upslanting palpebral fissures, large, low‐set ears, a broad nasal bridge with anteverted nares, downturned corners of the mouth; short neck; widely spaced nipples; Atrial septal defect; fifth finger clinodactyly, small hands and feet 1 1 Johan den Dunnen
00390718 Pat1 PubMed: Gazdagh 2019 - M - United Kingdom (Great Britain) - - - - - NDD intrauterine growth retardation (-4.0 SD); short stature (-3.6 SD); developmental delay; normocephaly; thin upper lip, micrognathia, low set ear; Laryngomalacia, feeding difficulty, vomiting in early infancy 1 1 Johan den Dunnen
00390719 Pat2 PubMed: Gazdagh 2019 - M - United Kingdom (Great Britain) - - - - - NDD intrauterine growth retardation (-0.53 SD); short stature (-2.4SD); developmental delay; normocephaly, plagiocephaly; protruding ears, thin upper lip vermilion, downturned corners of the mouth; generalised hypotonia, joint hypermobility, mildly elevated creatine kinase levels, severe feeding difficulties 1 1 Johan den Dunnen
00390720 Pat3 PubMed: Gazdagh 2019 - M - United Kingdom (Great Britain) - - - - - NDD no intrauterine growth retardation; short stature (-2.0 SD); developmental delay; relative macrocephaly,; strabismus; high broad forehead, down-slanting palpebral fissures, slightly low-set posteriorly rotated ears; hypoplastic nails (especially digits 3,4 and 5); mildly dysmorphic corpus callosum (curved with thin elongated splenium), delayed myelination 1 1 Johan den Dunnen
00390721 Pat4 PubMed: Gazdagh 2019 - M - United Kingdom (Great Britain) - - - - - NDD no intrauterine growth retardation; short stature (-1.37SD); developmental delay; normocephaly; micrognathia; webbed neck; hypoplastic finger nails and short toes, multiple epiphyseal dysplasia, Wormian bones; increased nuchal translucency on antenatal ultrasound scans 1 1 Johan den Dunnen
00390722 Pat5 PubMed: Gazdagh 2019 - M - United Kingdom (Great Britain) - - - - - NDD intrauterine growth retardation (-2.2 SD); short stature (-2.0 SD); developmental delay; myopia, hypermetropia, ptosis; thick eyebrows, prominent eyelashes, flat nasal bridge, short nose, broad nasal root and tip, anteverted nares, thick alae nasi, broad philtrum, high and broad forehead and slightly posteriorly rotated ears; mild 5th finger clinodactyly, small nails on his 2nd toes, mild joint laxity; feeding difficulties 1 1 Johan den Dunnen
00390723 Pat6 PubMed: Gazdagh 2019 - M - United Kingdom (Great Britain) - - - - - NDD no intrauterine growth retardation (-1.16 SD); no short stature (+0.74 SD); developmental delay; normocephaly; myopia; coarse face, low anterior hairline, thick eyebrows, broad nasal tip, thick vermilion of the lower lip and micrognathia,; joint hypermobility; pas cavus 1 1 Johan den Dunnen
00390724 Pat7 PubMed: Gazdagh 2019 - F - United Kingdom (Great Britain) - - - - - NDD intrauterine growth retardation (-2.0 SD); no short stature (-1.0 SD); developmental delay; downslanting palpebral fissures, low-set and posteriorly rotated ears, narrow and high palate, small chin; mild pectus carinatum; arachnodactyly, hypoplastic toenails, hyperkyphosis of the thoracic spine, hyperlordosis lumbar spine; cerebral sinus thrombosis; hypotonia, laryngeal web, delayed puberty, cerebral sinus thrombosis, anxiety 1 1 Johan den Dunnen
00390725 patient PubMed: Khazanchi 2019 - M - United States - - - - - NDD no intrauterine growth retardation (38w, 2.863kg); short stature (<5th percentile); developmental delay; ptosis, myopia, astigmatism, significant photophobia; coarse facies, frontal bossing, downslanting palpebral fissures, flat nasal bridge, broad nose, thick anteverted alae nasi, macrosomia, thin upper vermillion, thick lower vermillion, long and prominent philtrum, gingival hyperplasia with broad central maxillary incisors with crowded an irregular mandibular teeth, low set ear; fifth digit clinodactyly and persistent fetal finger/toe pads, nail hypoplasia of toes 3, 4, 5. shortened long bones; hypo-pigmentary anomalies, hyper-pigmentary anomalies; feeding problmes required a gastrostomy, ADHD 1 1 Johan den Dunnen
00397335 - PubMed: Gu 2018 - - - China - - - - - HR - 1 1 Johan den Dunnen
00420924 207566 - - F ? Syria - - - - - CSS6 Intellectual disability, mild, Lateral ventricular asymmetry, Impaired social interactions 1 1 Andreas Laner
00434734 Pat76 PubMed: Chen 2022 - - - - - - - - - NDD - 1 1 Johan den Dunnen
00434735 Pat77 PubMed: Chen 2022 - - - - - - - - - NDD - 1 1 Johan den Dunnen
00434736 Pat78 PubMed: Chen 2022 - - - - - - - - - NDD - 1 1 Johan den Dunnen
00434737 Pat79 PubMed: Chen 2022 - - - - - - - - - NDD - 1 1 Johan den Dunnen
00434738 Pat80 PubMed: Chen 2022 - - - - - - - - - NDD - 1 1 Johan den Dunnen
00434739 Pat81 PubMed: Chen 2022 - - - - - - - - - NDD - 1 1 Johan den Dunnen
00434740 Pat82 PubMed: Chen 2022 - - - - - - - - - NDD - 1 1 Johan den Dunnen
00434741 Pat83 PubMed: Chen 2022 - - - - - - - - - NDD - 1 1 Johan den Dunnen
00447914 Pat1 PubMed: Schrier Vergano 2024 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - CSS see paper; ..., no prenatal findings, birth 39w, weight 3.062 kg (25%), length 50.8 cm (50%); feeding difficulties, tube feeding (discontinued), GE reflux; no congenital heart disease; no seizures; MRI brain intracranial white matter loss, areas of T2 hyperintensity and pallor within the supratentorial white matter; restless leg syndrome, hemiparetic cerebral palsy; autism; speech apraxia; intermittent exotropia; astigmatism; no hearing loss; tracheomalacia; laryngomalacia; no cleft lip/palate; tonsillectomy/adenoidectomy; obstructive sleep apnea (resolved); frequent fractures, normal bone density; short stature (7y4m-19th); no 5th digit anomalies; asthma, sacral dimple; 4y-hx of traumatic brain injury; iron deficiency anemia 1 1 Johan den Dunnen
00447915 Pat2 PubMed: Schrier Vergano 2024 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - CSS see paper; ..., polyhydramnios, birth 39w+3, weight 3.3 kg (25th–50th%), length 48.3 cm (25th%); feeding difficulties, tube feeding (discontinued); no congenital heart disease; hypotonia; no seizures; MRI brain normal; autism; 18m-walk; 12m-first words; myopia; tympanostomy tubes; no cleft lip/palate; hip dysplasia; short stature (6y5m-2%); growth hormone supplementation; clinodactyly; 1 1 Johan den Dunnen
00447916 Pat3 PubMed: Schrier Vergano 2024 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - CSS see paper; ..., intra-uterine growth retardation, birth 36w+3, weight 1.6 kg (<10th%), length 40.6 cm (<10th%); feeding difficulties, tube feeding, GE reflux, celiac; congenital heart disease, PFO; hypotonia; no seizures; MRI brain normal; ADHD; <26m-walk; 24m-first words; moderate intellectual disability; amblyopia, strabismus; myopia/presbyopia/astigmatism; conductive hearing loss; tympanostomy tubes; no cleft lip/palate; hip dysplasia; short stature (4y8m-2%); 1 1 Johan den Dunnen
00447917 Pat4 PubMed: Schrier Vergano 2024 2-generation family, 1 affected M - - - - - - - CSS see paper; ..., no prenatal findings, weight 2.86 kg, length 48.5 cm; feeding difficulties, no tube feeding, no GE reflux; no congenital heart disease; hypotonia; no seizures; MRI brain normal; 23m-walk; <13m-first words; no strabismus; no myopia, no presbyopia, no astigmatism; no retinal abnormalities; no hearing loss; laryngomalacia; no cleft lip/palate; short stature (21m-<5th); no 5th digit anomalies; 1 1 Johan den Dunnen
00447918 Pat5 PubMed: Schrier Vergano 2024 2-generation family, 1 affected F - - - - - - - CSS see paper; ..., no prenatal findings, birth 38w+5, weight 3.04 kg (~45th%), length 47.6 cm (25th–50th%); feeding difficulties, no tube feeding; no seizures; MRI brain ectopic posterior pituitary; ADHD; 18m-walk; 12m-first words; mild intellectual disability; amblyopia; astigmatism; conductive hearing loss; tympanostomy tubes; no cleft lip/palate; genitourinary reflux, misplaced ureter; growth hormone supplementation; 1 1 Johan den Dunnen
00447919 Pat6 PubMed: Schrier Vergano 2024 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - CSS see paper; ..., no prenatal findings, birth 39w, weight 3.1 kg (25th–50th%), length 48.5 cm (50th%); feeding difficulties; hypotonia; no seizures; nystagmus, amblyopia; sensorineuronal hearing loss; no cleft lip/palate; prescribed AFOs; torticollis; 1 1 Johan den Dunnen
00447920 Pat7 PubMed: Schrier Vergano 2024 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - CSS see paper; ..., prenatal cystic hygroma noted, length; no congenital heart disease; hypotonia; no seizures; restless sleep; ADHD; 18m-walk; 18m-first words; strabismus; no cleft lip/palate; recurrent UTIs; short stature (7y-3rd); anxiety 1 1 Johan den Dunnen
00447921 Pat8 PubMed: Schrier Vergano 2024 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - CSS see paper; ..., prenatal luid around heart, kidneys, birth 38w, weight 2.95 kg (25th–50th%), length 48.5 cm (50th%); feeding difficulties, GE reflux, failure to thrive; hypotonia; no seizures; MRI brain arachnoid cysts; ADHD; 2y4m-walk; 18m-first words; conductive hearing loss; no cleft lip/palate; tonsillectomy, adenoidectomy; prescribed AFOs; short stature (8y6m-<1%); delayed tooth eruption; IgA deficiency; severe eczema 1 1 Johan den Dunnen
00447922 Pat9 PubMed: Schrier Vergano 2024 2-generation family, 1 affected M - - - - - - - CSS see paper; ..., birth 41w, weight 2.8 kg (10th%–25th%),; no congenital heart disease; hypotonia; no seizures; MRI brain normal; no autism; 33m-walk; 6y-first words; mild hyperopia, strabismus; no cleft lip/palate; coxa valga significantly delayed bone age (3-6m at 2y7m); genitourinary reflux; short stature; 5th digit anomalies; 1 1 Johan den Dunnen
00447923 Pat10 PubMed: Schrier Vergano 2024 2-generation family, 1 affected F - - - - - - - CSS see paper; ..., birth 41w, weight 3.5 kg (50th–75th%),; feeding difficulties, gastritis, failure to thrive, constipation; no congenital heart disease; no seizures; MRI brain increased T2 signal periatrial regions, thin posterior corpus callosum (?PVL); ADHD; 19m-walk; 3y-first words; mild intellectual disability; strabismus; no hearing loss; no cleft lip/palate; prescribed AFOs; torticollis; short stature (32m-25%); sacral dimple 1 1 Johan den Dunnen
00447924 Pat11 PubMed: Schrier Vergano 2024 2-generation family, 1 affected F - - - - - - - CSS see paper; ..., weight 3.1 kg,; feeding difficulties, GE reflux, on thickened feeds (resolved); no congenital heart disease; hypotonia; MRI brain normal; ADHD; 30m-walk; 54m-first words; strabismus; astigmatism; laryngomalacia; no cleft lip/palate; tracheomalacia, tympanostomy tubes; hip dysplasia; torticollis, plagiocephaly; short stature (9y-<1%); 1 1 Johan den Dunnen
00447925 Pat12 PubMed: Schrier Vergano 2024 2-generation family, 1 affected M - - - - - - - CSS see paper; ..., birth 39w+5, weight 2.9 kg (25th–30th%), length 48 cm (40th–50th%); feeding difficulties, slow weight gain, deep penetration on swallow study, on thickened feeds; no congenital heart disease; no hypotonia; no seizures; 19m-walk; 20m-first words; no strabismus; no myopia, no presbyopia, no astigmatism; no hearing loss; no cleft lip/palate; tonsillectomy/adenoidectomy; laryngeal cleft; no hip dysplasia; no scoliosis; hydrocoele; short stature (14m-5th-10th); small umbilical hernia; sascral dimple 1 1 Johan den Dunnen
00447926 Pat13 PubMed: Schrier Vergano 2024 2-generation family, 1 affected F - - - - - - - CSS see paper; ..., birth 38w, weight 2.5 kg (10th–25th%), length 47.5 cm (25th–50th%); feeding difficulties, GE reflux, IBS; congenital heart disease, mitral thickening; autism, ADHD; 20m-walk; 18m-first words; strabismus; no hearing loss; tonsillectomy/adenoidectomy; no short stature; no growth hormone supplementation; 5th digit anomalies; 1 1 Johan den Dunnen
00447927 Pat14 PubMed: Schrier Vergano 2024 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - CSS see paper; ..., twin gestation, IVF, birth 34w, weight 1.93 kg (25th–50th%),; no congenital heart disease; no seizures; MRI brain cerebellar vermian hypoplasia, mild generalized ventricular and CSF space prominence; cerebral palsy; ADHD; 27m-walk; >3y-first words; mild intellectual disability; strabismus, alternating exotropia; conversion insufficiency, palsy binocular eye movement; no hearing loss; no laryngomalacia; no cleft lip/palate; no tonsillectomy/adenoidectomy; no hip dysplasia; no scoliosis; no short stature; no growth hormone supplementation; no 5th digit anomalies; umbilical hernia, lateralized overgrowth 1 1 Johan den Dunnen
00447928 Pat15 PubMed: Schrier Vergano 2024 2-generation family, 1 affected M - - - - - - - CSS see paper; ..., egg donation, weight 3 kg, length 49 cm; feeding difficulties; no congenital heart disease; no seizures; 18m-walk; no strabismus; ptosis; genitourinary reflux; short stature; sacral dimple; high-riding anus; low blood zinc; growth hormone deficiency 1 1 Johan den Dunnen
00447929 Pat16 PubMed: Schrier Vergano 2024 2-generation family, 1 affected F - - - - - - - CSS see paper; ..., weight 3.15 kg, length 50.1 cm; congenital heart disease, PDA/PFO; 18m-walk; 19m-first words; strabismus; astigmatism; tonsillectomy/adenoidectomy; no 5th digit anomalies; 1 1 Johan den Dunnen
00447930 Pat17 PubMed: Schrier Vergano 2024 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - CSS see paper; ..., birth 41w, weight 3.73 kg (75th–90th%), length 52 cm (~80th%); feeding difficulties, GE reflux; congenital heart disease, miildly dilated aortic root; hypotonia; seizures; MRI brain mild prominence of CSF spaces; ADHD; 31m-walk; 30m-first words; no strabismus; no myopia, no presbyopia, no astigmatism; no retinal abnormalities; blocked tear ducts; no hearing loss; hip dysplasia; scoliosis; extra vertebrae; genitourinary reflux; short stature; thin scalp hair; pitting to nails; delayed bone age 1 1 Johan den Dunnen
00448196 Pat2 PubMed: Poli 2024 - M - Chile - - - - - ? intellectual disability; autism spectrum disorder; macrocephaly; minor facial anomalies; myopia; limbs anomalies; scoliosis 1 1 Johan den Dunnen
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