Disease #00839 (MRXSCH (intellectual developmental disorder, X-linked syndromic, Christianson type), OMIM:300243)

Official abbreviation MRXSCH
Name intellectual developmental disorder, X-linked syndromic, Christianson type
OMIM ID 300243
Human Phenotype Ontology Project (HPO) HPO
Inheritance X-linked
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene SLC9A6
Associated tissues -
Disease features X-linked dominant
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2025-03-14 15:19:19 +01:00 (CET)


Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00246684 00001 - - M no China - 01y - - - MRXSCH microcephaly, hearing impairment, neither walk nor talk SLC9A6 SLC9A6 1 1 Xia Zhang
00464433 322428 - - M no Germany - - - - - MRXSCH Autistic behavior, Neurodevelopmental delay, Microcephaly, Absent speech, Dysphagia, Enlarged cisterna magna SLC9A6 SLC9A6 1 1 Andreas Laner
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