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

DCX APP


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, Dutch type
APP



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

Synonym(s):
- X-linked lissencephaly type 1

Synonym(s):
- HCHWA, Dutch type
- HCHWA-D

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:
Class of prevalence: <1 / 1 000 000
Average age onset: adulthood
Average age of death: adult
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
2 MeSH references: C537944 / D028243


COMMON
SIGNS
- Seizures / epilepsy / absences / spasms / status epilepticus


Lissencephaly type 1 due to doublecortin gene mutation
Hereditary cerebral hemorrhage with amyloidosis, Dutch 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
- Facial pain / cephalalgia / migraine
- Intracranial / cerebral / meningeal hemorrhage
- Psychic / behavioural troubles
- Psychic / psychomotor regression / dementia / intellectual decline

Frequent
- Intracranial / cerebral calcifications
- Transient cerebral ischemia / stroke

Occasional
- Early death / lethality