Disease #01129 (MRX41 (mental retardation, X-linked, type 41 (MRX41)), OMIM:300849)

Official abbreviation MRX41
Name mental retardation, X-linked, type 41 (MRX41)
OMIM ID 300849
Human Phenotype Ontology Project (HPO) HPO
Inheritance X-linked dominant
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene GDI1
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

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00377102 179887 - - M no Germany - - - - - MRX41 Macrocephaly, Abnormal location of ears, Low-set ears, Delayed speech and language development, Hyperpigmentation of the skin, Abnormality of skin pigmentation, Hypopigmentation of the skin, Global developmental delay, Abnormal foot morphology, Pes planus, Neurological speech impairment, Language impairment, Abnormality of skin morphology, Neurodevelopmental delay, Increased head circumference GDI1 GDI1 1 1 Andreas Laner
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