ODCs

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

PROTEIN INTERACTIONS: 1

1 OMIM reference -
1 associated gene
12 signs/symptoms

Congenital brain dysgenesis due to glutamine synthetase deficiency

Spondylocarpotarsal synostosis


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	GLUL	(0.63)	FLNB

Citations in the biomedical literature:

Congenital brain dysgenesis due to glutamine synthetase deficiency		Spondylocarpotarsal synostosis
	Synonym(s): - Inherited GS deficiency - Inherited glutamine synthetase deficiency		Synonym(s): - Synspondylism

	Classification (Orphanet): - Inborn errors of metabolism - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease

	Classification (ICD10): - Endocrine, nutritional and metabolic diseases -		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: normal Type of inheritance: autosomal recessive

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

Spondylocarpotarsal synostosis
	Very frequent - Abnormal vertebral size / shape - Autosomal recessive inheritance - Carpal bones fusion / synostosis - Lordosis - Restricted joint mobility / joint stiffness / ankylosis - Short rib cage / thorax - Vertebral segmentation anomaly / hemivertebrae Occasional - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Conductive deafness / hearing loss - Pectus excavatum - Polycystic kidneys - Sensorineural deafness / hearing loss
Congenital brain dysgenesis due to glutamine synthetase deficiency
(no data available)