Pachygyria - intellectual deficit - epilepsy

General Information (adopted from Orphanet):

Synonyms, Signs: PACHYGYRIA WITH MENTAL RETARDATION AND SEIZURES
Kuzniecky syndrome
Number of Symptoms 14
OrphanetNr: 2798
OMIM Id: 600176
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Cerebral malformation with epilepsy
 -Rare genetic disease
 -Rare neurologic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001263) Global developmental delay 853 / 7739
2
 (HPO:0001249) Intellectual disability 1089 / 7739
3
 (HPO:0007270) Atypical absence seizures 3 / 7739
4
 (HPO:0002069) Generalized tonic-clonic seizures 96 / 7739
5
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
6
 (HPO:0007069) Profound static encephalopathy 1 / 7739
7
 (HPO:0000924) Abnormality of the skeletal system 114 / 7739
8
 (HPO:0001622) Premature birth Frequent [Orphanet] 100 / 7739
9
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
10
 (OMIM) Subcortical nodular lesions in perivascular white matter 1 / 7739
11
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
12
 (HPO:0100702) Arachnoid cyst 15 / 7739
13
 (HPO:0001302) Pachygyria 60 / 7739
14
 (OMIM) Cortical simplification 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) This autosomal recessive neurodevelopmental disorder is characterized by pachygyria, mental retardation, seizures, and diffuse localization of arachnoid cysts. It most likely represents a neuronal migration disorder within the lissencephaly spectrum (summary by Guzel et al., 2007).
Clinical Description OMIM Kuzniecky (1994) described 2 brothers, born of healthy, unrelated parents, with a profound static encephalopathy characterized by moderate impairment of intelligence, motor and developmental delay, and atypical absence, atonic, and generalized tonic-clonic seizures with onset at age 5 ...