Neurodevelopmental Disorder With Microcephaly, Absent Speech, And Hypotonia
Disease ID: disease_node_16454
Connections displayed (default: 10).
Loading graph...
| Dbxref | MIM:621060 |
|---|---|
| Subclassof | DOID_0060308 |
| Data Source | DOID |
| Synonyms | NEDMISH |
| Doid Label | neurodevelopmental disorder with microcephaly, absent speech, and hypotonia |
| Doid Description | 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. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_16454 |
| Doid Id | DOID_0051030 |
| Label | Neurodevelopmental Disorder With Microcephaly, Absent Speech, And Hypotonia |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Intellectual Developmental Disorder(ID:disease_node_16368) (Disease)