NDUFB11-related disorders

rare

A group of rare genetic conditions caused by variants in the NDUFB11 gene. Presentation is heterogenous including neurologic, cardiac, ocular, and dermatological abnormalities.

Identifiers: MONDO:1040023
Causal genes: NDUFB11
Part of: Hereditary disease Syndromic disease

Subtypes

All diseases Rare only

Disease	ID	Subtypes
Linear skin defects with multiple congenital anomalies 3	MONDO:0010494
Mitochondrial complex I deficiency, nuclear type 30	MONDO:0026721

Rare disease

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