" /> Spastic paraplegia 52, autosomal recessive - CISMeF





Preferred Label : Spastic paraplegia 52, autosomal recessive;

Symbol : SPG52;

CISMeF acronym : CPSQ6; SPG52;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : CPSQ6; Cerebral palsy, spastic quadriplegic, 6;

Description : Spastic quadriplegia-52 is an autosomal recessive neurodevelopmental disorder characterized by neonatal hypotonia that progresses to hypertonia and spasticity and severe mental retardation with poor or absent speech development (summary by Abou Jamra et al., 2011).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the adaptor-related protein complex 4, sigma-1 subunit (AP4S1, 607243.0001);

Prefixed ID : #614067;

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30/07/2025


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