Disease #02067 (SOST1 (sclerosteosis, type 1 (SOST-1)), OMIM:269500)

Official abbreviation SOST1
Name sclerosteosis, type 1 (SOST-1)
OMIM ID 269500
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene SOST
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

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00387929 FamPatIV5 PubMed: Fayez 2015 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents/relatives M yes (Egypt) Africa - - - - SOST1 Visual impairment (HP:0000505), Hearing impairment (HP:0000365), Abnormal facial shape (HP:0001999), Increased arm span (HP:0012771), Macrocephaly (HP:0000256), Delayed speech and language development (HP:0000750), Radial deviation of the hand or of fingers of the hand (HP:0009485), Camptodactyly of 2nd-5th fingers (HP:0001215), Clinodactyly (HP:0030084), Cranial hyperostosis (HP:0004437), SOST SOST 1 2 Alaaeldin Fayez
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