Disease #05217

Official abbreviation NDHSAL
Name neurodevelopmental disorder with hypotonia, seizures, absent language (NDHSAL)
OMIM ID 617268
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 7
Phenotype entries for this disease 7
Associated with 1 gene HECW2
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Individuals

7 entries on 1 page. Showing entries 1 - 7.
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00095908 - PubMed: Berko 2017, Journal: Berko 2017 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - 0 - - NDHSAL developmental delay moderate (HP:0001263), intellectual disability (HP:0002342), autism (HP:0000717), hypotonia (HP:0001252), sit 9m, walk 3y, 5y-generalised tonic clonic seizures (now seizure free), hand flapping, self-injurious behaviours, aggressive behaviour, inappropriate laughter, wide-based gait, exercise intolerance, strabismus, gastro-oesophageal reflux disease, constipstion, MRI-brain normal, midface retrusion, thin vermillion upper lip HECW2 HECW2 1 1 Johan den Dunnen
00095909 - PubMed: Berko 2017, Journal: Berko 2017 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - 0 - - NDHSAL developmental delay (HP:0001263), intellectual disability mild (HP:0001256, IQ=55), autism (HP:0000717), hypotonia (HP:0001252), sit 12m, walk 3y (with braces), talk 2y (few words), EEG excessive slowing with abnormal burst discharges, self-stimulatory behaviour, no visual problems, MRI-brain normal, no gastrointestinal problems, flat nasal bridge, mild epicanthal folds, telecanthus, thick eyebrows, synophrys, short, upturned nose with bulbous nasal tip, midface hypoplasia, full lower lip, widely spaced teeth, tongue protrusion, thick supraorbital ridge, deep set eyes, mouth is wide and down turned, prominent central incisors, joint laxity in knees, ankles, pain insensitivity HECW2 HECW2 1 1 Johan den Dunnen
00095910 - PubMed: Berko 2017, Journal: Berko 2017 2-generation family, affected mono-zygotic twin pair, unaffected non-carrier parents F - United States - - 0 - - NDHSAL developmental delay (HP:0001263), hypotonia (HP:0001252), sit unable, currently intractable tonic seizures, rocking and flapping hand behaviours, strabismus, nystagmus with fevers, MRI-brain mild ventriculomegaly and increased extra-axial fluid, G-tube fed, deep set eyes, ptosis, prominent forehead, osteopenia, frequent waking at night HECW2 HECW2 1 2 Johan den Dunnen
00095911 - PubMed: Berko 2017, Journal: Berko 2017 twin sister F - United States - - 0 - - NDHSAL developmental delay (HP:0001263), hypotonia (HP:0001252), sit unable, currently intractable tonic seizures, rocking and flapping hand behaviours, strabismus, nystagmus with fevers, MRI-brain mild ventriculomegaly and increased extra-axial fluid, G-tube fed, deep set eyes, ptosis, prominent forehead, osteopenia, frequent waking at night HECW2 HECW2 1 1 Johan den Dunnen
00095912 - PubMed: Berko 2017, Journal: Berko 2017 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - 0 - - NDHSAL developmental delay (HP:0001263), hypotonia (HP:0001252), sit unable, no seizures, repetitive hand movements, self-injurious behaviours, cortical visual impairment, MRI-brain normal, gastrointestinal requires burping regularly, slightly large ears, upturned nose with bulbous nasal tip HECW2 HECW2 1 1 Johan den Dunnen
00095913 - PubMed: Berko 2017, Journal: Berko 2017 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - 0 - - NDHSAL developmental delay (HP:0001263), intellectual disability (HP:0001249), hypotonia (HP:0001252), sit unable, infantile spasms starting ∼5 m (few months seizure free), rno abnormal behaviours, cortical visual impairment, MRI-brain cerebral atrophy, thin corpus callosum, G-tube fed, sparse eyebrows, slightly depressed nasal bridge, upturned nasal tip, hyperglutaminaemia, scrotal hypoplasia, pectus excavatum HECW2, SLC17A7 HECW2, SLC17A7 3 1 Johan den Dunnen
00095914 - PubMed: Berko 2017, Journal: Berko 2017 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - 0 - - NDHSAL developmental delay (HP:0001263), intellectual disability (HP:0001249), no autism (-HP:0000717), hypotonia (HP:0001252), sit unable, walk unable, EEG multifocal and generalised epileptiform and slow spike-wave discharges with diffuse background slowing, self-stimulatory rocking, sucking on fingers, choreiform movements, optic atrophy, cortical visual impairment, MRI-brain progressive cerebral atrophy with mild cerebellar loss, atrophy of visual pathways, several small arachnoid cysts G-tube fed, gastroparesis, constipation, hypotonic facies, highly arched palate, gracile bones, mild osteopenia throughout with no definite dysplasia, cardiomyopathy started prenatally, heart block, prolonged QT interval EIF2B2, HECW2 EIF2B2, HECW2 2 1 Johan den Dunnen
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