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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
13 signs/symptoms
Lissencephaly type 1 due to doublecortin gene mutation
Hereditary cerebral hemorrhage with amyloidosis, Piedmont 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, Piedmont type
APP



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

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

Synonym(s):
- HCHWA, Piedmont 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
- Intellectual deficit / mental / psychomotor retardation / learning disability


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

Very frequent
- Seizures / epilepsy / absences / spasms / status epilepticus

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



Very frequent
- Autosomal dominant inheritance
- Intracranial / cerebral / meningeal hemorrhage
- Motor deficit / trouble
- Obnubilation / coma / lethargia / desorientation
- Paresthesia / dysesthesia / hypoesthesia / anesthesia / numbness
- Psychic / psychomotor regression / dementia / intellectual decline
- Sensitive trouble / deficit
- Transient cerebral ischemia / stroke

Frequent
- Cerebral vascular anomalies
- Facial pain / cephalalgia / migraine
- Psychic / behavioural troubles

Occasional
- Early death / lethality