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Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Septo-optic dysplasia

1 OMIM reference -
6 associated genes
34 signs/symptoms

Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

Septo-optic dysplasia

CREBBP	(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)	CREBBP	(0.67)	FGFR1

Citations in the biomedical literature:

Rubinstein-Taybi syndrome due to 16p13.3 microdeletion		Septo-optic dysplasia
	Synonym(s): (no synonyms)		Synonym(s): - De Morsier syndrome - SOD - Septo-optic dysplasia spectrum

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

Septo-optic dysplasia
	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 - Seizures / epilepsy / absences / spasms / status epilepticus - 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 - Intellectual deficit / mental / psychomotor retardation / learning disability - 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
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
(no data available)