Disease #06844 (AUTSX4 ({Autism, susceptibility to, X-linked 4}), OMIM:300830)

Official abbreviation AUTSX4
Name {Autism, susceptibility to, X-linked 4}
OMIM ID 300830
Human Phenotype Ontology Project (HPO) HPO
Inheritance X-linked recessive
Individuals reported having this disease 3
Phenotype entries for this disease 3
Associated with 1 gene PTCHD1
Associated tissues -
Disease features -
Remarks -
Date created 2021-12-10 23:20:41 +01:00 (CET)
Date last edited N/A


Individuals

3 entries on 1 page. Showing entries 1 - 3.
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00433672 - - - M - - - - - - - AUTSX4 moderate intellectual disability, global developmental delay - PIK3R1, PTCHD1 2 1 Marketa Wayhelova
00433673 - - - - - - - - - - - AUTSX4 intellectual disability, hypotonia - CACNA1A, PTCHD1 2 1 Marketa Wayhelova
00466076 337113 - - M no Germany - - - - - AUTSX4 Abnormality of skin pigmentation, Autistic behavior, Global developmental delay, Intellectual disability, mild, Hyperactivity, Asymmetry of the thorax, Prominent fingertip pads, Aggression towards others, Self-biting PTCHD1 PTCHD1 1 1 Andreas Laner
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