intellectual disability-hypotonic facies syndrome, X-linked, 1
MONDO:0010663Mondo
Findings
No curated finding names intellectual disability-hypotonic facies syndrome, X-linked, 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A group of X-linked syndromes characterized by severe intellectual deficit and facial dysmorphism, with variable other features.
Definition from the Mondo Disease Ontology (MONDO:0010663), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
HPO, annotations 2026-09-02
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ATRXHGNC:886
- Moderate · Ambry Genetics · X-linked · 2018
Where it sits
- A kind of
Other names
13 names
Resolves to: intellectual disability-hypotonic facies syndrome, X-linked, 1
- Also called
- Carpenter-Waziri syndromeChudley Lowry Hoar syndromeChudley-Lowry syndromeChudley-Lowry-Hoar syndromeHolmes-Gang syndromeintellectual disability-hypotonic facies syndrome, X-linked, type 1mental retardation-hypotonic facies syndrome, X-linked, type 1mental retardation-hypotonic facies syndrome, X-linked, X-linked recessiveMRXHF1SFMSSmith-Fineman-Myers syndromeX-linked intellectual disability-hypotonic face syndromeXLMR-hypotonic facies syndrome