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1 OMIM reference -
1 associated gene
31 signs/symptoms

PROTEIN INTERACTIONS: 1

Idiopathic central precocious puberty

1 associated gene
No signs/symptoms info

KBG syndrome

Idiopathic central precocious puberty

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ANKRD11	(0.63)	MKRN3

Citations in the biomedical literature:

KBG syndrome		Idiopathic central precocious puberty
	Synonym(s): - Short stature - facial and skeletal anomalies - intellectual deficit - macrodontia		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease - Rare odontologic disease		Classification (Orphanet): - Rare gynecologic or obstetric disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Endocrine, nutritional and metabolic diseases -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: (no data available)

	External references: 1 OMIM reference - 1 MeSH reference: C537015		External references: No OMIM references No MeSH references

KBG syndrome
	Very frequent - Abnormal vertebral size / shape - Absent / decreased / thin eyebrows - Anomalies of the ribs - Autosomal dominant inheritance - Brachycephaly / flat occiput - Complete / partial macrodontia - Delayed bone age - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Intellectual deficit / mental / psychomotor retardation / learning disability - Round face - Short hand / brachydactyly - Short stature / dwarfism / nanism - Telecanthus / canthal dystopy Frequent - Abnormal dentition / dental position / implantation / unerupted / dental ankylosis - Anodontia / oligodontia / hypodontia - EEG anomalies - Hypertelorism - Low hair line (back) - Low set ears / posteriorly rotated ears - Microstomia / little mouth - Short neck - Simian crease / transverse / unique palmar crease - Strabismus / squint - Syndactyly of fingers / interdigital palm Occasional - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Enamel anomaly - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - Hearing loss / hypoacusia / deafness - Pointed chin - Postaxial polydactyly (hand) - Undescended / ectopic testes / cryptorchidia / unfixed testes
Idiopathic central precocious puberty
(no data available)