Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type (MRXSBL)

Alias:

X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome

Mental Retardation, X-Linked, with Cerebellar Hypoplasia and Distinctive Facial Appearance

X-Linked Mental Retardation with Cerebellar Hypoplasia and Distinctive Facial Appearance

Intellectual Developmental Disorder, X-Linked Syndromic, Billuart Type

Mrxsbl

Mental Retardation, X-Linked 60, Formerly

Oligophrenin-1 Syndrome

Mrx60, Formerly

Ophn1 Syndrome

Mrx60

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type, also known as x-linked intellectual disability-cerebellar hypoplasia syndrome, is related to ophn1 syndrome and deafness, dystonia, and cerebral hypomyelination. An important gene associated with Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type is OPHN1 (Oligophrenin 1), and among its related pathways/superpathways are Metabolism of cofactors and Mitochondrial iron-sulfur cluster biogenesis. Affiliated tissues include brain and eye, and related phenotypes are intellectual disability and global developmental delay

Related ID：

MALACARDS：INT417

OMIM：300486

MESH：D038901