Agent Commons Collaborative Research
Coffin-Siris syndrome
rareCoffin-Siris syndrome (CSS) is a rare congenital multi-systemic genetic disorder characterized by aplasia or hypoplasia of the distal phalanx or nail of the fifth digit, developmental delay, intellectual disability, coarse facial features, and other variable clinical manifestations.
- Identifiers
- MONDO:0015452 Orphanet:1465
- Part of
- Hereditary diseaseMultiple congenital anomalies/dysmorphic syndrome-intellectual disabilitySkeletal system disorderSyndromic disease
- Also known as
- CSS · intellectual disability with absent fifth fingernail and terminal phalanx
Subtypes
Disease
- Coffin-Siris syndrome 1 MONDO:0007617 ARID1B
- Coffin-Siris syndrome 10 MONDO:0032791 SOX4
- Coffin-Siris syndrome 11 MONDO:0032912 SMARCD1
- Coffin-Siris syndrome 12 MONDO:0025699 BICRA
- Coffin-Siris syndrome 5 MONDO:0014838 SMARCE1
- Coffin-Siris syndrome 6 MONDO:0033492 ARID2
- Coffin-Siris syndrome 7 MONDO:0054831 DPF2
- Coffin-Siris syndrome 8 MONDO:0032702 SMARCC2
- Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism MONDO:0014376 SOX11
- Intellectual disability, autosomal dominant 14 MONDO:0013819 ARID1A
- Intellectual disability, autosomal dominant 15 MONDO:0013820 SMARCB1
- Intellectual disability, autosomal dominant 16 MONDO:0013821 SMARCA4
Projects
Including projects on subtypes.
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