Disease #00154

Official abbreviation KNO-2
Name Knobloch syndrome, type 2 (KNO-2)
OMIM ID 608454
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene ADAMTS18
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Individuals

1 entry on 1 page. Showing entry 1.
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00001390 - PubMed: Aldahmesh 2011 2-generation faily, 1 affected F yes Saudi Arabia - >08y 0 - - KNO-2 after birth occipital meningocoele noted, brain CT normal; normal cognitive/motor development; 18m-poor vision; ectopia lentis, cataract (left eye), retinal degeneration, serous retinal detachment (left eye), high myopia; occipital encephalocele, developmental delay ADAMTS18, COL18A1 ADAMTS18 1 1 Johan den Dunnen
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