Disease #01118 (XLID9;MRX9 (intellectual developmental disorder, X-linked, type 9), OMIM:309549)

Official abbreviation XLID9;MRX9
Name intellectual developmental disorder, X-linked, type 9
OMIM ID 309549
Human Phenotype Ontology Project (HPO) HPO
Inheritance X-linked recessive
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene FTSJ1
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2025-05-09 10:41:06 +02:00 (CEST)


Individuals

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00386941 187140 - - F no Germany - - - - - XLID9;MRX9 Neurodevelopmental delay, Muscular hypotonia, Dystonia, Foot dorsiflexor weakness, Abnormal putamen morphology, Abnormality of the cerebral white matter, Hydrocephalus, Abnormality of the midface FTSJ1 FTSJ1 1 1 Andreas Laner
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