AP4-related intellectual disability and spastic paraplegia

MedGen UID:: 1663055
•Concept ID:: C4755264
•: Disease or Syndrome

Synonym:	Severe intellectual disability and progressive spastic paraplegia
SNOMED CT:	Severe intellectual disability and progressive spastic paraplegia (778011005); AP4 deficiency syndrome (778011005)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Orphanet:	ORPHA280763

Definition

A rare complex spastic paraplegia with characteristics of early onset hypotonia that progresses to spasticity, global developmental delay, severe intellectual disability and speech impairment, microcephaly, short stature and dysmorphic features. Patients often become non-ambulatory and some develop seizures and stereotypic laughter. [from SNOMEDCT_US]

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GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

AP4-related intellectual disability and spastic paraplegia

Autosomal recessive complex spastic paraplegia
- AP4-related intellectual disability and spastic paraplegia

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AP4-related intellectual disability and spastic paraplegia

Definition

Term Hierarchy

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