Neurodevelopmental Disorder with Spastic Paraplegia and Microcephaly (NEDSPM)

Alias:

Nedspm

Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome

Neurodevelopmental Disorder with Microcephaly and Spastic Paraplegia

Mental Retardation, Autosomal Recessive 49, Formerly

Mental Retardation, Autosomal Recessive, Type 49

Glutamate Pyruvate Transaminase 2 Deficiency

Mrt49, Formerly

Mrt49

Favorite

Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Neurodevelopmental Disorder with Spastic Paraplegia and Microcephaly, is also known as nedspm. An important gene associated with Neurodevelopmental Disorder with Spastic Paraplegia and Microcephaly is GPT2 (Glutamic--Pyruvic Transaminase 2). Affiliated tissues include brain, and related phenotypes are intellectual disability and hyperreflexia

Related ID：

MALACARDS：NRD101

OMIM：616281

MESH：D008607