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Seizures-intellectual disability due to hydroxylysinuria syndrome

MedGen UID:
343450
•Concept ID:
C1855986
•
Finding
Synonym: Hydroxylysinuria
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)
 
HPO: HP:0032414
Monarch Initiative: MONDO:0009373
OMIM®: 236900
Orphanet: ORPHA79156

Definition

The presence of an elevated amount of 5-hydroxylysine in the urine. This compound is a hydroxylated derivative of the amino acid lysine that is present in certain collagens. [from HPO]

Clinical features

From HPO
Hyperlysinuria
MedGen UID:
867368
•Concept ID:
C4021733
•
Finding
An increased concentration of lysine in the urine.
See: Feature record | Search on this feature
Intellectual disability
MedGen UID:
811461
•Concept ID:
C3714756
•
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
See: Feature record | Search on this feature
Generalized myoclonic seizure
MedGen UID:
892704
•Concept ID:
C4021759
•
Disease or Syndrome
A generalized myoclonic seizure is a type of generalized motor seizure characterized by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSeizures-intellectual disability due to hydroxylysinuria syndrome
Follow this link to review classifications for Seizures-intellectual disability due to hydroxylysinuria syndrome in Orphanet.

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