| Metadata | |
|---|---|
| ID | DOID:0070777 |
| PURL | http://purl.obolibrary.org/obo/DOID_0070777 Copy |
| Name | syndromic X-linked intellectual developmental disorder, Snijders Blok type |
| Definition | A syndromic X-linked intellectual disability characterized by mildly to severely impaired intellectual development with variable other features including brain abnormalities, microcephaly, hypotonia, movement disorder and/or spasticity, ventricular enlargement, hypoplasia, and behavioral problems that has_material_basis_in heterozygous or hemizygous mutation in the DDX3X gene on Xp11. It occurs predominantly in females. https://www.ncbi.nlm.nih.gov/books/NBK561282/, https://pubmed.ncbi.nlm.nih.gov/30734472/, https://pubmed.ncbi.nlm.nih.gov/26235985/ |
| Xrefs |
SNOMEDCT_US_2026_03_01:1254654006 |
| SKOS |
exactMatch ORDO:457260 exactMatch GARD:12715 exactMatch MIM:300958 broadMatch ICD10CM:F78.A |
| Subsets |
DO_rare_slim |
| Synonyms |
intellectual developmental disorder, X-linked, syndromic, Snijders Blok type [EXACT] MRXSSB [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance or has material basis in some autosomal recessive inheritance |