ODCs

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
7 signs/symptoms

Distal 16p11.2 microdeletion syndrome

Severe achondroplasia - developmental delay - acanthosis nigricans


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SH2B1	(0.77)	FGFR3

Citations in the biomedical literature:

Distal 16p11.2 microdeletion syndrome		Severe achondroplasia - developmental delay - acanthosis nigricans
	Synonym(s): - Distal del(16)(p11.2) - Distal monosomy 16p11.2		Synonym(s): - SADDAN

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare genetic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin 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 / 1 000 000 Average age onset: childhood Average age of death: no data available Type of inheritance: autosomal dominant

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

Severe achondroplasia - developmental delay - acanthosis nigricans
	Very frequent - Anomalies of bones / skeletal anomalies - Intellectual deficit / mental / psychomotor retardation / learning disability - Seizures / epilepsy / absences / spasms / status epilepticus Frequent - Clavicle absent / abnormal - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly - Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly
Distal 16p11.2 microdeletion syndrome
(no data available)