ODCs

Cytoscape Web

Click node...

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

COMMON GENES: 1

Seckel syndrome

6 OMIM references -
6 associated genes
24 signs/symptoms

Jawad syndrome

Seckel syndrome

RBBP8	(UniProt - OMIM)		ATR	(UniProt - OMIM)
			ATRIP	(UniProt - OMIM)
			CENPJ	(UniProt - OMIM)
			CEP152	(UniProt - OMIM)
			PCNT	(UniProt - OMIM)
			RBBP8	(UniProt - OMIM)


COMMON GENES	RBBP8

Citations in the biomedical literature:

Jawad syndrome		Seckel syndrome

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease

	Classification (ICD10): (no data available)		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 6 OMIM references - 1 MeSH reference: C537533

Seckel syndrome
	Very frequent - Abnormal / absent ossification - Autosomal recessive inheritance - Beaked nose - Clinodactyly of fifth finger - Craniostenosis / craniosynostosis / sutural synostosis - Intellectual deficit / mental / psychomotor retardation / learning disability - Intrauterine growth retardation - Microcephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Narrow face - Premature ageing - Short stature / dwarfism / nanism - Small / hypoplastic / adherent / absent ear lobe - Wasted (excluding lipodystrophy) / poorly muscled build / cachexy - Wide space between 1st-2nd toes Frequent - Anodontia / oligodontia / hypodontia - Cone epiphyses / epiphysis - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Enamel anomaly - Glaucoma - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Hyperextensible joints / articular hyperlaxity - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness Occasional - Scoliosis
Jawad syndrome
(no data available)