ODCs

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Intellectual deficit, X-linked - psychosis - macroorchidism

1 OMIM reference -
1 associated gene
13 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Septo-optic dysplasia

1 OMIM reference -
6 associated genes
34 signs/symptoms

Intellectual deficit, X-linked - psychosis - macroorchidism

Septo-optic dysplasia

MECP2	(UniProt - OMIM)	FGFR1	(UniProt - OMIM)
		HESX1	(UniProt - OMIM)
		OTX2	(UniProt - OMIM)
		PROKR2	(UniProt - OMIM)
		SOX2	(UniProt - OMIM)
		SOX3	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	MECP2	(0.63)	SOX2

Citations in the biomedical literature:

Intellectual deficit, X-linked - psychosis - macroorchidism		Septo-optic dysplasia
	Synonym(s): - Lindsay-Burn syndrome - PPM-X		Synonym(s): - De Morsier syndrome - SOD - Septo-optic dysplasia spectrum

	Classification (Orphanet): - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare eye disease - 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: 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: D025962


COMMON SIGNS	- Intellectual deficit / mental / psychomotor retardation / learning disability - Seizures / epilepsy / absences / spasms / status epilepticus

Intellectual deficit, X-linked - psychosis - macroorchidism		Septo-optic dysplasia
	Very frequent - Hypertonia / spasticity / rigidity / stiffness - Macroorchidism / macrotestes - Movement disorder - Psychic / behavioural troubles - X-linked recessive inheritance Frequent - Abnormal gait - EEG anomalies - Long / large ear Occasional - Psychic / psychomotor regression / dementia / intellectual decline - Scoliosis - Structural anomalies of the cardio-circulatory system		Very frequent - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Septo-optic dysplasia - Visual loss / blindness / amblyopia Frequent - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Corpus callosum / septum pellucidum total / partial agenesis - Hemiplegia / diplegia / hemiparesia / limb palsy - Hypothalamic-hypophyseal axis anomalies / hypothalamus / pituitary anomalies - Hypothalamic-hypophyseal axis functional anomalies / hypopituitarism - Micropenis / small penis / agenesis - Nystagmus - Short stature / dwarfism / nanism - Strabismus / squint - Undescended / ectopic testes / cryptorchidia / unfixed testes Occasional - Anosmia / cacosmia / hypogeusia / hyposmia / olfactory bulb hypoplasia - Antenatal exposure : alcohol - Asthenia / fatigue / weakness - Autism / autistic disoders - Autosomal dominant inheritance - Autosomal recessive inheritance - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Congenital cardiac anomaly / malformation / cardiopathy - Constipation - Diabetes insipidus - Dry / squaly skin / exfoliation - Generalized obesity - Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance - Maternal diabetes - Pollakiuria / polyuria / dysuria / anuria / acute urine retention / oliguria - Sensorineural deafness / hearing loss - Sleep and vigilance disorders - Thirst - Tracheo-esophageal fistula / esophageal atresia / stenosis