ODCs

Click node...

1 OMIM reference -
1 associated gene
13 signs/symptoms

PROTEIN INTERACTIONS: 1

3 OMIM references -
3 associated genes
No signs/symptoms info

Intellectual deficit, X-linked - psychosis - macroorchidism

Neurofibromatosis type 3


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	MECP2	(0.92)	SMARCB1

Citations in the biomedical literature:

Intellectual deficit, X-linked - psychosis - macroorchidism		Neurofibromatosis type 3
	Synonym(s): - Lindsay-Burn syndrome - PPM-X		Synonym(s): - NF3 - Neurilemmomatosis - Schwannomatosis

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

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

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: x-linked dominant		Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 3 OMIM references - 1 MeSH reference: C536641

Intellectual deficit, X-linked - psychosis - macroorchidism
	Very frequent - Hypertonia / spasticity / rigidity / stiffness - Intellectual deficit / mental / psychomotor retardation / learning disability - Macroorchidism / macrotestes - Movement disorder - Psychic / behavioural troubles - X-linked recessive inheritance Frequent - Abnormal gait - EEG anomalies - Long / large ear - Seizures / epilepsy / absences / spasms / status epilepticus Occasional - Psychic / psychomotor regression / dementia / intellectual decline - Scoliosis - Structural anomalies of the cardio-circulatory system
Neurofibromatosis type 3
(no data available)