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Microcephaly - seizures - developmental delay
1 OMIM reference -
1 associated gene
16 connected diseases
6 signs/symptoms
Disease Type of connection
LIG4 syndrome
Omenn syndrome
Epileptic encephalopathy with global cerebral demyelination
Familial cortical myoclonus
Primary ciliary dyskinesia
MULIBREY nanism
Severe combined immunodeficiency due to DNA-PKcs deficiency
Treacher-Collins syndrome
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
X-linked Opitz G / BBB syndrome
Synonym(s):
- MCSZ
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
PNKP Q96T60605610
Very frequent
- Autosomal recessive inheritance
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Microcephaly
- Seizures / epilepsy / absences / spasms / status epilepticus

Frequent
- Hyperactivity / attention deficit
- Psychic / behavioural troubles