ODCs

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Ear-patella-short stature syndrome

5 OMIM references -
5 associated genes
35 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 4

Ataxia-telangiectasia

2 OMIM references -
1 associated gene
39 signs/symptoms

Ear-patella-short stature syndrome

Ataxia-telangiectasia

CDC6	(UniProt - OMIM)	ATM	(UniProt - OMIM)
CDT1	(UniProt - OMIM)
ORC1	(UniProt - OMIM)
ORC4	(UniProt - OMIM)
ORC6	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CDC6	(0.56)	ATM

Citations in the biomedical literature:

Ear-patella-short stature syndrome		Ataxia-telangiectasia
	Synonym(s): - Meier-Gorlin syndrome		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: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - 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: 5 OMIM references - 1 MeSH reference: C538012		External references: 2 OMIM references - 1 MeSH reference: D001260


COMMON SIGNS	- Autosomal recessive inheritance - Failure to thrive / difficulties for feeding in infancy / growth delay - Intellectual deficit / mental / psychomotor retardation / learning disability - Short stature / dwarfism / nanism

Ear-patella-short stature syndrome		Ataxia-telangiectasia
	Very frequent - Delayed bone age - Epiphyseal anomaly - External auditory canal atresia / stenosis / agenesis - Hyperextensible joints / articular hyperlaxity - Hypoplastic mandibula / partial absence of the mandibula - Intrauterine growth retardation - Microcephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Microstomia / little mouth - Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia - Narrowed / gracile diaphysis / diaphyses / long bones / dolichostenomelia - Undescended / ectopic testes / cryptorchidia / unfixed testes Frequent - Camptodactyly of fingers - Clavicle absent / abnormal - Clinodactyly of fifth finger - Clitoris / labia majora / labia minora / female external genitalia hypoplasia - Craniostenosis / craniosynostosis / sutural synostosis - Female pseudohermaphrodism / virilisation / clitoridomegaly - High vaulted / narrow palate - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Low set ears / posteriorly rotated ears - Patella absent / abnormal (excluding luxation) - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Rib structure anomalies Occasional - Breast tissue / mammary gland absence / aplasia - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Elbow dislocation - Hearing loss / hypoacusia / deafness - Hypospadias / epispadias / bent penis - Micropenis / small penis / agenesis - Thick lips		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 ageing - 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 - Insulin-independent / type 2 diabetes - Skin hypoplasia / aplasia / atrophy - Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia