Disease #05555

Official abbreviation NEDIDHA
Name neurodevelopmental disorder, impaired intellectual development, hypotonia, and ataxia (NEDIDHA)
OMIM ID 618292
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene DOCK3
Associated tissues -
Disease features autosomal recessive
Remarks -


Individuals

1 entry on 1 page. Showing entry 1.
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00238978 - - - ? no Japan East Asian - 0 - - NEDIDHA With sick sinus syndrome MECP2 MECP2 1 2 Kazuhiro Iwama
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