Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation (MDFPMR)

Alias:

Mdfpmr

Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation, also known as mdfpmr, is related to tuberous sclerosis 1 and tuberous sclerosis 2. An important gene associated with Macrocephaly, Dysmorphic Facies, and Psychomotor Retardation is HERC1 (HECT And RLD Domain Containing E3 Ubiquitin Protein Ligase Family Member 1). Affiliated tissues include cerebellum and brain, and related phenotypes are hypotonia and hypertelorism

Related ID：

MALACARDS：MCR321

OMIM：617011

MESH：D006130