ODCs

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1 OMIM reference -
3 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 2

1 OMIM reference -
1 associated gene
20 signs/symptoms

Proximal spinal muscular atrophy type 3

Lethal osteosclerotic bone dysplasia


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SMN1 SMN2	(0.63) (0.63)	FAM20C FAM20C

Citations in the biomedical literature:

Proximal spinal muscular atrophy type 3		Lethal osteosclerotic bone dysplasia
	Synonym(s): - Juvenile spinal muscular atrophy - Kugelberg-Welander disease - SMA type 3 - SMA-III - SMA3		Synonym(s): - Raine syndrome

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

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

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

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

Lethal osteosclerotic bone dysplasia
	Very frequent - Anteverted nares / nostrils - Autosomal recessive inheritance - Cleft lip and palate - Exaggerated cupid bows - Flared chest / bell-shaped thorax / shield chest - Flattened nose - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Large fontanelle / delayed fontanelle closure - Low set ears / posteriorly rotated ears - Microcephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Osteosclerosis / osteopetrosis / bone condensation - Short neck - Stillbirth / neonatal death Frequent - Hypoplastic mandibula / partial absence of the mandibula - Intrauterine growth retardation - Proptosis / exophthalmos - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Short / small nose - Thickened / hypertrophic / fibromatous gingivae
Proximal spinal muscular atrophy type 3
(no data available)