Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities

Preferred Label : Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities;

Symbol : NEDHIB;

CISMeF acronym : NEDHIB;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the polymerase II, RNA, subunit A gene POLR2A (180660.0001);

Prefixed ID : #618603;

Details

Origin ID

618603;

UMLS CUI

C5231423;

Genes related to phenotype
- Polymerase II, rna, subunit a [OMIM gene]
HPO term(s)
- Abnormal globus pallidus morphology [HPO term]
- Agenesis of corpus callosum [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant germline de novo mutation [HPO term]
- Brachycephaly [HPO term]
- Cleft palate [HPO term]
- Decreased fetal movement [HPO term]
- Delayed CNS myelination [HPO term]
- Delayed ability to sit [HPO term]
- Delayed ability to walk [HPO term]
- Developmental stagnation [HPO term]
- Enlarged cisterna magna [HPO term]
- Exercise intolerance [HPO term]
- Failure to thrive [HPO term]
- Feeding difficulties [HPO term]
- Frog-leg posture [HPO term]
- Gastroesophageal reflux [HPO term]
- Generalized hypotonia [HPO term]
- High forehead [HPO term]
- High palate [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Inguinal hernia [HPO term]
- Microcephaly [HPO term]
- Pectus excavatum [HPO term]
- Plagiocephaly [HPO term]
- Recurrent respiratory infections [HPO term]
- Seizure [HPO term]
- Skeletal muscle atrophy [HPO term]
- Sleep disturbance [HPO term]
- Strabismus [HPO term]
- Tooth malposition [HPO term]
- Ventriculomegaly [HPO term]
- Visual impairment [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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