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Lissencephaly type 1 due to doublecortin gene mutation
1 OMIM reference -
1 associated gene
5 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1
Hereditary cerebral hemorrhage with amyloidosis, Italian type
1 OMIM reference -
1 associated gene
7 signs/symptoms
Lissencephaly type 1 due to doublecortin gene mutation
Hereditary cerebral hemorrhage with amyloidosis, Italian type

DCX
(UniProt - OMIM)
 APP
(UniProt - OMIM)

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
DCX
(0.56)
APP


Citations in the biomedical literature:


Lissencephaly type 1 due to doublecortin gene mutation
DCX
Hereditary cerebral hemorrhage with amyloidosis, Italian type
APP



Lissencephaly type 1 due to doublecortin gene mutation
Hereditary cerebral hemorrhage with amyloidosis, Italian type

Synonym(s):
- X-linked lissencephaly type 1
Synonym(s):
- HCHWA, Italian type
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: x-linked recessive
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
No MeSH references
COMMON
SIGNS 		- Seizures / epilepsy / absences / spasms / status epilepticus

Lissencephaly type 1 due to doublecortin gene mutation
Hereditary cerebral hemorrhage with amyloidosis, Italian type

Very frequent
- Intellectual deficit / mental / psychomotor retardation / learning disability

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



Very frequent
- Autosomal dominant inheritance
- Facial pain / cephalalgia / migraine
- Intracranial / cerebral / meningeal hemorrhage
- Transient cerebral ischemia / stroke

Frequent
- Obnubilation / coma / lethargia / desorientation
- Psychic / psychomotor regression / dementia / intellectual decline