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Seckel syndrome

6 OMIM references -
6 associated genes
24 signs/symptoms

PROTEIN INTERACTIONS: 3
COMMON SIGNS: 4

Ataxia-telangiectasia

2 OMIM references -
1 associated gene
39 signs/symptoms

Seckel syndrome

Ataxia-telangiectasia

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


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	RBBP8 ATR ATRIP	(0.78) (0.75) (0.68)	ATM ATM ATM

Citations in the biomedical literature:

Seckel syndrome		Ataxia-telangiectasia
	Synonym(s): (no synonyms)		Synonym(s): - Louis-Bar syndrome

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare eye disease - Rare genetic disease - Rare gynecologic or obstetric disease - Rare immune disease - Rare neurologic disease - Rare oncologic disease - Rare skin disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the nervous system -

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: neonatal/infancy Average age of death: adult Type of inheritance: autosomal recessive

	External references: 6 OMIM references - 1 MeSH reference: C537533		External references: 2 OMIM references - 1 MeSH reference: D001260


COMMON SIGNS	- Autosomal recessive inheritance - Intellectual deficit / mental / psychomotor retardation / learning disability - Premature ageing - Short stature / dwarfism / nanism

Seckel syndrome		Ataxia-telangiectasia
	Very frequent - Abnormal / absent ossification - Beaked nose - Clinodactyly of fifth finger - Craniostenosis / craniosynostosis / sutural synostosis - Intrauterine growth retardation - Microcephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Narrow face - 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		Very frequent - Abnormal eye movements / oculomotor disorder - Abnormal gait - Abnormal hepatic enzymes / transaminases - Abnormal / polycystic ovaries - Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency - Anomalies of skin, subcutaneous tissue and mucosae - Anomalies of the immunitary system - Ataxia / incoordination / trouble of the equilibrium - Chromosome breakage - Immunodeficiency / increased susceptibility to infections / recurrent infections - Late puberty / hypogonadism / hypogenitalism - Lymphopenia - Movement disorder - Nystagmus - Premature greying of hair - Repeat respiratory infections - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Strabismus / squint - T-cell deficiency / cellular immunity deficiency - Telangiectasiae of mucosae - Telangiectasiae of the skin - Thymic aplasia / hypoplasia - Tremor Frequent - Albinism (hair) - Diabetes mellitus - Elocution disorders / dysarthria / dysphonia - Hypertonia / spasticity / rigidity / stiffness - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Neoplasms / tumors - Seizures / epilepsy / absences / spasms / status epilepticus Occasional - Cafe-au-lait spot - Failure to thrive / difficulties for feeding in infancy / growth delay - Insulin-independent / type 2 diabetes - Skin hypoplasia / aplasia / atrophy - Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia