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1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
3 associated genes
18 signs/symptoms
Isolated focal cortical dysplasia type IIb
Miller-Dieker syndrome

TSC1 HIC1
PAFAH1B1
YWHAE


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TSC1
(0.76)
YWHAE



Citations in the biomedical literature:


Isolated focal cortical dysplasia type IIb
TSC1
Miller-Dieker syndrome
HIC1 PAFAH1B1 YWHAE



Isolated focal cortical dysplasia type IIb
Miller-Dieker syndrome

Synonym(s):
- FCD type IIb

Synonym(s):
- Lissencephaly due to 17p13.3 deletion
- Monosomy 17p13.3
- Telomeric deletion 17p

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D054221

Miller-Dieker syndrome

Very frequent
- Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect
- Anomalies of mouth, lip and philtrum
- Anteverted nares / nostrils
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- EEG anomalies
- Epicanthic folds
- Failure to thrive / difficulties for feeding in infancy / growth delay
- High forehead
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short / small nose

Frequent
- Polyhydramnios
- Structural anomalies of the cardio-circulatory system

Occasional
- Ataxia / incoordination / trouble of the equilibrium
- Clinodactyly of fifth finger
- Corpus callosum / septum pellucidum total / partial agenesis
- Omphalocele / exomphalos
- Renal disease / nephropathy
- Sacral sinus / dimple


Isolated focal cortical dysplasia type IIb

(no data available)