ODCs

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1 OMIM reference -
1 associated gene
13 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 2

1 OMIM reference -
1 associated gene
15 signs/symptoms

Intellectual deficit, X-linked - psychosis - macroorchidism

Trisomy Xq28

Citations in the biomedical literature:

Intellectual deficit, X-linked - psychosis - macroorchidism		Trisomy Xq28
	Synonym(s): - Lindsay-Burn syndrome - PPM-X		Synonym(s): - Distal duplication Xq - Telomeric duplication Xq

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic 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: (no data available)

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


COMMON SIGNS	- Abnormal gait - Intellectual deficit / mental / psychomotor retardation / learning disability

Intellectual deficit, X-linked - psychosis - macroorchidism		Trisomy Xq28
	Very frequent - Hypertonia / spasticity / rigidity / stiffness - Macroorchidism / macrotestes - Movement disorder - Psychic / behavioural troubles - X-linked recessive inheritance Frequent - 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 - Blepharophimosis / short palpebral fissures - Delayed bone age - Epicanthic folds - Everted lower lip - Ptosis - Short stature / dwarfism / nanism - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Tented upper lip - Total / partial trisomy / duplication - Undescended / ectopic testes / cryptorchidia / unfixed testes Frequent - Inguinal / inguinoscrotal / crural hernia - Pectus excavatum Occasional - Restricted joint mobility / joint stiffness / ankylosis