Knobloch syndrome
Knobloch syndrome (KS) is defined by vitreoretinal and macular degeneration, and occipital encephalocele
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Knobloch syndrome
Summary
Knobloch syndrome is a developmental defect during embryogenesis[1].
Key Facts
- Knobloch syndrome's instance of is recorded as developmental defect during embryogenesis[2].
- Knobloch syndrome's instance of is recorded as rare disease[3].
- Knobloch syndrome's instance of is recorded as class of disease[4].
- Knobloch syndrome is a type of vitreoretinal degeneration[5].
- Knobloch syndrome is a type of syndromic developmental defect of the eye[6].
- Knobloch syndrome's symptoms and signs is recorded as nystagmus[7].
- Knobloch syndrome's ICD-9-CM is recorded as 759.89[8].
- Knobloch syndrome's NCI Thesaurus ID is recorded as C201594[9].
- Knobloch syndrome's genetic association is recorded as COL18A1[10].
- Knobloch syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_1571[11].