PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation

MedGen UID:: 1564287
•Concept ID:: CN924912
•: Disease or Syndrome

Synonyms:	autosomal dominant intellectual disability 31; autosomal dominant mental retardation 31; autosomal dominant non-syndromic intellectual disability 31; intellectual disability, autosomal dominant 31; intellectual disability, autosomal dominant type 31; mental retardation, autosomal dominant 31; mental retardation, autosomal dominant type 31; MRD31; neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties
Modes of inheritance:	Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • 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 heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Not genetically inherited MedGen UID: 988794 •Concept ID: CN307044 • Finding Source: Orphanet clinical entity without genetic inheritance. See: This record Autosomal dominant inheritance (Orphanet) Not genetically inherited (Orphanet)

Monarch Initiative:	MONDO:0014512
Orphanet:	ORPHA438216

Definition

PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation is a rare, genetic neurological disease, with a highly variable phenotype, typically characterized by neonatal hypotonia, respiratory and feeding difficulties, global development delay (often with nonverbal and frequently non-ambulatory progression) and myopathic facies. Other frequently present features include seizures (or seizure-like episodes), visual impairment and encephalopathy. [from MONDO]

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CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
- PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
  - PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation

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PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation

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