neurodevelopmental disorder with microcephaly, absent speech, and hypotonia

Term ID

DOID:0051030

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. https://pubmed.ncbi.nlm.nih.gov/39306721/

References

• MIM:621060

Ontology

Human Disease   ( DOID:0051030 )