Term Name: | neurodevelopmental disorder with microcephaly, absent speech, and hypotonia |
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Synonyms: | NEDMISH |
Definition: | An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, hypotonia with virtually no motor skill acquisition, and profoundly impaired intellectual development with absent speech and that has_material_basis_in homozygous or compound heterozygous mutation in the FLVCR1 gene on chromosome 1q32. |
Ontology: | Human Disease [DOID:0051030] ( DOID:0051030 ) |