Disease #01131 (MRX72 (mental retardation, X-linked, type 72 (MRX72)), OMIM:300271)

Official abbreviation MRX72
Name mental retardation, X-linked, type 72 (MRX72)
OMIM ID 300271
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 RAB39B
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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00317978 FamPatIII1 PubMed: Santoro 2020 3-generation family, 2 affected (ID), 3 unaffected carrier females M no Italy - - - - - ?, MRX72, NF , multiple café-au-lait macules and freckling, severe macrocephaly, peculiar facial gestalt, severe intellectual disability, absent speech, epilepsy, autistic traits, self-harming, aggressiveness - NF1, RAB39B 2 2 Giulio Piluso
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