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1 OMIM reference -
1 associated gene
13 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
18 signs/symptoms
Intellectual deficit, X-linked - psychosis - macroorchidism
Hypotrichosis - lymphedema - telangiectasia

MECP2 SOX18


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MECP2
(0.63)
SOX18



Citations in the biomedical literature:


Intellectual deficit, X-linked - psychosis - macroorchidism
MECP2
Hypotrichosis - lymphedema - telangiectasia
SOX18



Intellectual deficit, X-linked - psychosis - macroorchidism
Hypotrichosis - lymphedema - telangiectasia

Synonym(s):
- Lindsay-Burn syndrome
- PPM-X

Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare circulatory system disease
- Rare genetic disease
- Rare skin disease

Classification (ICD10):
- Mental and behavioural disorders -
Classification (ICD10):
(no data available)

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: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal dominant

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

Intellectual deficit, X-linked - psychosis - macroorchidism
Hypotrichosis - lymphedema - telangiectasia

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


Very frequent
- Absent / decreased / thin eyebrows
- Alopecia
- Decreased body hair / axillar / pubic hairlessness
- Edema of the legs / lower limbs
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Lymphangioma / lymphatic malformations
- Lymphedema
- Telangiectasiae of the skin

Frequent
- Anomalies of eyelids, eyelashes and lacrimal system
- Cutis marmorata / marbled skin / livedo
- Follicular / erythematous / edematous papules / milium
- Palpebral edema / periorbital edema
- Vaginal hydrocele / hematocele / pyocele / lymphocele / varicocele
- Varices / varicous veins / venous insufficiency

Occasional
- Abnormal pleura / hydrothorax / pleuresia / pleural effusion / chylothorax
- Capillary hemangioma / nevus / naevus flammeus / port-wine stain
- Hydrops fetalis
- Structural anomaly of the peritoneum