Online Mendelian Inheritance in Man

Last uploaded: March 22, 2026

Id	http://purl.bioontology.org/ontology/OMIM/300830 http://purl.bioontology.org/ontology/OMIM/300830
Preferred Name	AUTISM, SUSCEPTIBILITY TO, X-LINKED 4
Synonyms	AUTSX4 CHROMOSOME Xp22 DELETION SYNDROME
Type	http://www.w3.org/2002/07/owl#Class

altLabel	AUTSX4 CHROMOSOME Xp22 DELETION SYNDROME
prefLabel	AUTISM, SUSCEPTIBILITY TO, X-LINKED 4
Gene Symbol	AUTSX4 PTCHD1
Scope Statement	Caused by mutation in the patched domain-containing protein 1 gene (PTCHD1, 300828.0001) [MOLECULAR BASIS] Onset in infancy [MISCELLANEOUS] Variable severity [MISCELLANEOUS] Nonspecific subtle dysmorphic facial features may be present [MISCELLANEOUS] Most patients have contiguous gene deletion syndrome involving Xp22 [MISCELLANEOUS]
type	http://www.w3.org/2002/07/owl#Class
Has manifestation	http://purl.bioontology.org/ontology/OMIM/MTHU000248 http://purl.bioontology.org/ontology/OMIM/MTHU044365 http://purl.bioontology.org/ontology/OMIM/MTHU031256 http://purl.bioontology.org/ontology/OMIM/MTHU000197 http://purl.bioontology.org/ontology/OMIM/MTHU049242 http://purl.bioontology.org/ontology/OMIM/MTHU035437 http://purl.bioontology.org/ontology/OMIM/MTHU043125 http://purl.bioontology.org/ontology/OMIM/MTHU004285 http://purl.bioontology.org/ontology/OMIM/MTHU014120 http://purl.bioontology.org/ontology/OMIM/MTHU049240 http://purl.bioontology.org/ontology/OMIM/MTHU049241 See more See less
tui	T047 T033
Gene Locus	Xp22.11
MIMTYPEMEANING	Phenotype description, molecular basis known.
notation	300830
Semantic type UMLS property	http://purl.bioontology.org/ontology/STY/T047 http://purl.bioontology.org/ontology/STY/T033
Has inheritance type	http://purl.bioontology.org/ontology/OMIM/MTHU006805
cui	C0795888 C4082794
OMIM Entry Type	3
OMIM MimType Value	pound

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