Seizures - intellectual deficit due to hydroxylysinuria

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 9
OrphanetNr: 79156
OMIM Id: 236900
ICD-10: E72.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 3 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: No data available
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Disorder of lysine and hydroxylysine metabolism
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0003297) Hyperlysinuria 10 / 7739
2
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
3
 (HPO:0001249) Intellectual disability 1089 / 7739
4
 (HPO:0002123) Generalized myoclonic seizures 62 / 7739
5
 (HPO:0004337) Abnormality of amino acid metabolism Very frequent [Orphanet] 45 / 7739
6
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
7
 (OMIM) Major motor seizures 1 / 7739
8
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
9
 (OMIM) Hydroxylysinuria 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Benson et al. (1969) described hydroxylysinuria in a 19-year-old man and his 16-year-old sister, both of whom had myoclonic and major motor seizures and were mentally retarded. The parents were related. The clinical features were similar in a ...