| Metadata | |
|---|---|
| ID | DOID:0070820 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070820 Copy |
| Name | neurodevelopmental disorder with white matter abnormalities and gait disturbance |
| Definition | An autosomal recessive intellectual developmental disorder characterized by macrocephaly, global developmental delay, impaired intellectual development, seizures, behavioral abnormalities, hypotonia, and gait disturbance that has_material_basis_in homozygous or compound heterozygous mutation in the FAM177A1 gene on chromosome 14q13. https://omim.org/entry/621152#2 |
| Xrefs | |
| SKOS |
exactMatch UMLS_CUI:C6012709 exactMatch MIM:621152 |
| Subsets |
DO_rare_slim |
| Synonyms |
NEDWMG [EXACT] |
| Parent Relationships |
is_a autosomal recessive intellectual developmental disorder |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |