Intellectual Developmental Disorder, Autosomal Dominant 44, with Microcephaly (MRD44)

Alias:

Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome

Mrd44

Autosomal Dominant Intellectual Developmental Disorder 44

Autosomal Dominant Intellectual Developmental Disorder 44 with Microcephaly

Autosomal Dominant Non-Syndromic Intellectual Disability 44

Mental Retardation, Autosomal Dominant, Type 44

Mental Retardation, Autosomal Dominant 44

Autosomal Dominant Mental Retardation 44

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Intellectual Developmental Disorder, Autosomal Dominant 44, with Microcephaly, also known as micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, is related to neuropathy, hereditary sensory and autonomic, type iib and hereditary sensory neuropathy. An important gene associated with Intellectual Developmental Disorder, Autosomal Dominant 44, with Microcephaly is TRIO (Trio Rho Guanine Nucleotide Exchange Factor), and among its related pathways/superpathways is Netrin-1 signaling. Affiliated tissues include brain, and related phenotypes are global developmental delay and intellectual disability, mild

Related ID：

MALACARDS：INT373

OMIM：617061

MESH：D008607