| Metadata | |
|---|---|
| ID | DOID:0070813 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070813 Copy |
| Name | progressive ataxia absent speech neurodevelopmental disorder with poor growth and dysmorphic facies |
| Definition | A syndrome characterized by dysmorphic facies, delayed motor development with ataxic or spastic gait, impaired intellectual development with absent speech, and poor overall growth, including microcephaly and short stature, that has_material_basis_in homozygous mutation in the SEL1L gene on chromosome 14q31. https://pubmed.ncbi.nlm.nih.gov/37943610/ |
| Xrefs | |
| SKOS |
exactMatch UMLS_CUI:C5975594 exactMatch MIM:621067 |
| Subsets |
DO_rare_slim |
| Synonyms |
NEDGSAF [EXACT] |
| Parent Relationships |
is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |