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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

Fraser syndrome

1 OMIM reference -
3 associated genes
52 signs/symptoms

Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

Fraser syndrome

CREBBP	(UniProt - OMIM)	FRAS1	(UniProt - OMIM)
		FREM2	(UniProt - OMIM)
		GRIP1	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CREBBP	(0.63)	GRIP1

Citations in the biomedical literature:

Rubinstein-Taybi syndrome due to 16p13.3 microdeletion		Fraser syndrome
	Synonym(s): (no synonyms)		Synonym(s): - Cryptophthalmos-syndactyly syndrome

	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 abdominal surgical disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare otorhinolaryngologic disease - Rare renal 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: 1-9 / 1 000 000 Average age onset: neonatal/infancy Average age of death: any age Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D058497

Fraser syndrome
	Very frequent - Agenesis / hypoplasia / aplasia of kidneys - Autosomal recessive inheritance - Cryptophthalmia / ankyloblepharon / synblepharon - Defect / anomaly of lacrimal system - Multicystic kidney / renal dysplasia - Syndactyly of fingers / interdigital palm - Visual loss / blindness / amblyopia Frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Ambiguous genitalia - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Broad nose / nasal bridge - Cleft / notched / bifid tongue - Female pseudohermaphrodism / virilisation / clitoridomegaly - Hypertelorism - Hypoplastic scrotum / hemiscrotum / scrotal ridges - Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula - Larynx / laryngeal stenosis / atresia - Low set ears / posteriorly rotated ears - Micropenis / small penis / agenesis - Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Structural anomalies of middle ear / ossicles / tympanic cavity - Syndactyly of toes - Vagina anomalies / atresia / hydrometrocolpos / hymen imperforation Occasional - Abnormal implantation of hair - Abnormally placed nipples - Absent lobe / lung / segmentation defect / abnormal lobulation / sequestration - Anus ectopia / anteposition / malposition - Bifid tip / cleft nose / supernumerary nose - Bladder and ureter anomalies - Cleft lip - Cleft lip and palate - Conductive deafness / hearing loss - Congenital cardiac anomaly / malformation / cardiopathy - Death in infancy - Encephalocele / exencephaly - External auditory canal atresia / stenosis / agenesis - High vaulted / narrow palate - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Hypospadias / epispadias / bent penis - Intellectual deficit / mental / psychomotor retardation / learning disability - Microcephaly - Myelomeningocele - Omphalocele / exomphalos - Scalp / skull defect - Stillbirth / neonatal death - Thin / hypoplastic ala nasi - Tracheal atresia / stenosis - Umbilical hernia - Undescended / ectopic testes / cryptorchidia / unfixed testes - Uterine / uterus / Fallopian tubes anomalies - Vertebral segmentation anomaly / hemivertebrae
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
(no data available)