/congenital short bowel syndrome, autosomal recessive

congenital short bowel syndrome, autosomal recessive

Rare Disease

MONDO:0020718

Also Known As

CSBScongenital short bowel syndromecongenital short bowel syndrome 1congenital short bowel syndrome due to CLMP variation

Comprehensive, easy-to-understand information about this condition

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Gene data from MyGene.info • Click to view on NCBI Gene

inherited bleeding disorder, platelet-type

MONDO:0000009

infantile liver failure

MONDO:0000023

febrile seizures, familial

MONDO:0000032

hereditary hypophosphatemic rickets

MONDO:0000044

hypothyroidism, congenital, nongoitrous

MONDO:0000045

isolated microphthalmia

MONDO:0000062