All individuals with variants in gene ATOH1

9 entries on 1 page. Showing entries 1 - 9.
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00361532 15DG1898 PubMed: Anazi 2017 simplex case M yes Saudi Arabia - - - - - ID not syndromic; global developmental delay, hypotonia, nystagmus, poor visual tracking, dysmorphism, pontocerebellar hypoplasia and brain atrophy (frontal lobe) 1 1 Johan den Dunnen
00472421 Pat1 PubMed: Bertola 2026 2-generation family, 1 affected, unaffected non-carrier parents M - France - - - - - HL see paper; ..., normal pregnancy, normal delivery; no hypotonia; 9m-sit; 15m-walk; ataxia; tremor; dysmetria; no dysarthria; delayed oral/written language development; no intellectual disability; normal behavior; normal schooling with educational adjustments; stable development; 3y-severe bilateral sensorineural deafness, many otitis before diagnosis; normal ears; oculomotor apraxia, hypermetropia; 3y-MRI brain short mesencephalon, small protuberance with linear T1 hypointense/T2 hyperintense signal abnormality, laterally enlarged medulla, with anterior cleft, small vermis (widening fissures), subtle dysplasia cerebellar hemispheres, normal vestibulocochlear nerve, normal cochlea, normal semi-circular canal 1 1 Johan den Dunnen
00472422 Pat2 PubMed: Bertola 2026 3-generation family, 1 affected, father/paternal grandmother hearing loss M - France - - - - - HL see paper; ..., normal pregnancy, normal delivery; 30m-walk; very slight ataxia; tremor; dysmetria; no dysarthria, language delay; no intellectual disability; normal behavior; normal but vocationnal schooling; stable development; 3y-mild-moderate bilateral sensorineural deafness; normal ears; no ophthalmological anomalies; 42y-MRI brain short mesencephalon, small triangular protuberance with linear signal on sagittal sections (hyposignal T1, hypersignal T2), laterally enlarged medulla, with anterior cleft, slight dysplasiavermis, subtle dysplasia cerebellar hemispheres, normal vestibulocochlear nerve, normal cochlea, normal semi-circular canal, absence of dorsal transverse pontine fibers and medial lemniscus 1 1 Johan den Dunnen
00472423 FamPat3 PubMed: Bertola 2026 3-generation family, 3 affected M - France - - - - - HL see paper; ..., normal pregnancy, normal delivery; no ataxia; no tremor; no dysmetria; no dysarthria; normal speech; no intellectual disability; normal behavior; schooling difficulties; stable development; 7y-mild bilateral sensorineural deafness; normal ears; 38y-MRI brain short mesencephalon, small protuberance with abnormal T1-w hypointense/T2-w hyperintense oblong area on sagittal sections, laterally enlarged medulla, with anterior cleft, vermian hypoplasia, normal cerebellar hemispheres, normal cochlea, normal semi-circular canal 1 3 Johan den Dunnen
00472424 FamPat4 PubMed: Bertola 2026 grandmother F - France - - - - - HL see paper; ..., normal pregnancy, normal delivery; no dysarthria; 15y-migraine (2-3 times a week); no intellectual disability; normal behavior; schooling difficulties; 3y-moderate bilateral sensorineural deafness, failed perinatal hearing screening; normal ears; 55y-MRI brain short mesencephalon, flattened protuberance with abnormal signal, laterally enlarged medulla, with anterior cleft, normal vermis, normal cerebellar hemispheres 1 1 Johan den Dunnen
00472425 FamPat5 PubMed: Bertola 2026 daugther F - France - - - - - HL see paper; ..., pregnancy small weight; hypotonia; <9m-sit; 19m-walk, mtor delay; slight balance troubles; no tremor; no dysmetria; no dysarthria; 2y-uncomplicated febrile seizure, 3y-uncomplicated febrile seizure; delayed language; intellectual disability (probably related to RNU4-2 pathogenic variant); normal behavior; learning difficulties; mild bilateral deafness; normal ears; no ophthalmological anomalies; 4y9m-MRI brain short mesencephalon, pontine hypoplasia with hyposignal T1, anteroposterior flattening medulla, vermian hypoplasia, slight hypoplasia cerebellar hemispheres, bilateral hypoplasia cochlear nerve with hypoplastic internal auditory canal, normal cochlea, normal semi-circular canal 1 1 Johan den Dunnen
00472426 Pat6 PubMed: Bertola 2026 2-generation family, 1 affected, unaffected non-carrier parents M - - - - - - - HL see paper; ..., normal pregnancy, normal delivery; no hypotonia; delayed sitting; 19m-walk; no ataxia; no tremor; dysmetria; dysarthria; impaired fine motor skills, frequent falling; speech delay (1y); no intellectual disability; impaired social interactions, impaired decision making; learning difficulties; 1m-moderate bilateral sensorineural deafness; normal ears; strabism; 5y4m-MRI brain short mesencephalon, thin pons, small protuberance with abnormal signal, accentuation bulbo-protuberantial groove, laterally enlarged medulla, with anterior cleft, vermian hypoplasia, normal cerebellar hemispheres, normal vestibulocochlear nerve, normal cochlea, normal semi-circular canal, absence of dorsal transverse pontine fibers and medial lemniscus 1 1 Johan den Dunnen
00472427 Pat7 PubMed: Bertola 2026 2-generation family, 1 affected, unaffected non-carrier parents F - - - - - - - HL see paper; ..., normal pregnancy, normal delivery; did not pass neonatal hearing screening; no hypotonia; normal sitting; 18m-walk; no ataxia; no tremor; no dysmetria; no dysarthria; 3.y3m-speech therapy, after speech clear; no intellectual disability; normal behavior; attends regular school, normal, no special needs; development age appropriate; 7m-moderate symmetric bilateral sensorineural "flat" hearing loss, failed neonatal hearing screening, problems with otitis media with effusion; normal ears; bilateral epicanthal folds; single palmar crease left hand; 2y-MRI brain short mesencephalon, flattened protuberance with abnormalT1-w hypointense/T2-w hyperintense oblong area on sagittal sections, laterally enlarged medulla, with anterior cleft, vermian hypoplasia, normal cerebellar hemispheres, bilateral hypoplasia cochlear nerve with hypoplastic internal auditory canal, normal cochlea, normal semi-circular canal 1 1 Johan den Dunnen
00472428 Pat8 PubMed: Bertola 2026 2-generation family, 1 affected, unaffected heterozygous carrier parents F - France - - - - - HL see paper; ..., normal pregnancy, normal delivery; hypotonia; nystagmus; not sitting; not walking; truncal ataxia; no tremor; no dysmetria; no speech; no speech; severe intellectual disability; severe behavioral anomalies, temper tantrums, aggressivity, inappropriate laughing, crying; development slow progress then stagnation, no regression; 5y-profound bilateral sensorineural deafness; normal ears; 2m-nystagmus, strabism; hypertelorism; 22y-MRI brain normal mesencephalon, major pons hypoplasia, absence protuberance’s bulging, hypoplasia medulla, antero posterior flattening medulla, severe vermian hypoplasia (near absence), hypodysplasia cerebellar hemispheres, normal vestibulocochlear nerve, normal cochlea, normal semi-circular canal 1 1 Johan den Dunnen
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