Term Name: neurodevelopmental disorder with microcephaly, absent speech, and hypotonia
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 )

Relationships
is a type of: autosomal recessive intellectual developmental disorder