Hernández-Aguirre Negrete syndrome

MedGen UID:: 419481
•Concept ID:: C2931736
•: Disease or Syndrome

Synonyms:	Ehlers-Danlos syndrome with progeroid facies and mild mental retardation; Hernandez Aguirre-Negrete syndrome; Hernández Aguirre-Negrete syndrome
SNOMED CT:	Intellectual disability, epilepsy, bulbous nose syndrome (721146009); Hernandez Aguirre Negrete syndrome (721146009)
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)

Monarch Initiative:	MONDO:0016290
Orphanet:	ORPHA2139

Definition

This syndrome has characteristics of major seizures, dysmorphic features (round face, bulbous nose, wide mouth, prominent philtrum), pes planus, psychomotor retardation and obesity. It has been described in five children (three boys and two girls, one of whom died in infancy) from two unrelated Mexican families. [from SNOMEDCT_US]

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GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVHernández-Aguirre Negrete syndrome

Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
- Hernández-Aguirre Negrete syndrome

Follow this link to review classifications for Hernández-Aguirre Negrete syndrome in Orphanet.

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Hernández-Aguirre Negrete syndrome

Definition

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