| Metadata | |
|---|---|
| ID | DOID:0051030 |
| Name | neurodevelopmental disorder with microcephaly, absent speech, and hypotonia |
| 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/ |
| Xrefs | |
| Synonyms |
NEDMISH [EXACT] |
| Parent Relationships |
is_a autosomal recessive intellectual developmental disorder |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |