Neurodevelopmental Disorder with Feeding Difficulties, Thin Corpus Callosum, and Foot Deformity (NEDFCF)

Alias:

Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome

Mental Retardation, Autosomal Recessive 40

Nedfcf

Mrt40

Intellectual Developmental Disorder, Autosomal Recessive 40

Autosomal Recessive Intellectual Developmental Disorder 40

Mental Retardation, Autosomal Recessive, Type 40

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Neurodevelopmental Disorder with Feeding Difficulties, Thin Corpus Callosum, and Foot Deformity, also known as microcephaly-thin corpus callosum-intellectual disability syndrome, is related to microcephaly, and has symptoms including muscle spasticity and abnormal pyramidal signs. An important gene associated with Neurodevelopmental Disorder with Feeding Difficulties, Thin Corpus Callosum, and Foot Deformity is TAF2 (TATA-Box Binding Protein Associated Factor 2). Affiliated tissues include brain, and related phenotypes are intellectual disability and spasticity

Related ID：

MALACARDS：NRD149

OMIM：615599

MESH：D008607