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Lissencephaly type 1 due to doublecortin gene mutation
1 OMIM reference -
1 associated gene
18 connected diseases
5 signs/symptoms
Disease Type of connection
Subcortical band heterotopia
17p13.3 microduplication syndrome
Lissencephaly due to LIS1 mutation
Miller-Dieker syndrome
B-cell chronic lymphocytic leukemia
Dyskeratosis congenita
Hoyeraal-Hreidarsson syndrome
Pancytopenia due to IKZF1 mutations
Pediatric systemic lupus erythematosus
Precursor B-cell acute lymphoblastic leukemia
Retinopathy - anemia- central nervous system anomalies
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
Synonym(s):
- X-linked lissencephaly type 1
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: x-linked recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
DCX O43602300121
Very frequent
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Seizures / epilepsy / absences / spasms / status epilepticus

Frequent
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hypertonia / spasticity / rigidity / stiffness
- Hypotonia