Neurodevelopmental disorder with hypotonia, microcephaly, and seizures

Preferred Label : Neurodevelopmental disorder with hypotonia, microcephaly, and seizures;

Symbol : NEDHYMS;

CISMeF acronym : NEDHYMS;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the adenosine deaminase, RNA-specific, B1 gene (ADARB1, 601218.0001);

Prefixed ID : #618862;

Details

Origin ID

618862;

UMLS CUI

C5394312;

Genes related to phenotype
- Adenosine deaminase, rna-specific, b1 [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Autosomal recessive inheritance [HPO term]
- Brachycephaly [HPO term]
- Cerebral visual impairment [HPO term]
- Delayed CNS myelination [HPO term]
- Delayed ability to walk [HPO term]
- Exotropia [HPO term]
- Feeding difficulties [HPO term]
- Generalized hypotonia [HPO term]
- Global developmental delay [HPO term]
- High anterior hairline [HPO term]
- High palate [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Increased nuchal translucency [HPO term]
- Intellectual disability [HPO term]
- Interictal epileptiform activity [HPO term]
- Laryngomalacia [HPO term]
- Microcephaly [HPO term]
- Motor delay [HPO term]
- Oval face [HPO term]
- Plagiocephaly [HPO term]
- Polyhydramnios [HPO term]
- Prominent metopic ridge [HPO term]
- Round face [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Skeletal muscle atrophy [HPO term]
- Spasticity [HPO term]
- Temporal cortical atrophy [HPO term]
- Thin upper lip vermilion [HPO term]
- Unilateral cryptorchidism [HPO term]
- Upslanted palpebral fissure [HPO term]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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