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Orphanet: Multiple mitochondrial dysfunctions syndrome type 6

WebDisease definition. A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by developmental delay with intellectual disability, postnatal growth deficiency causing profound limb shortening with proximal and distal segments involvement, narrow chest, abnormalities of the spine, pelvis, and metaphyses, corneal clouding ... WebDisease definition. A rare mitochondrial disease characterized by onset of episodic developmental regression in the first year of life, often in the setting of febrile illnesses, as well as hypotonia and seizures or refractory epileptic encephalopathy. Other observed features include ataxia, dystonia, or optic atrophy, among others. dairy free peach cobbler

Orphanet: Spondylometaphyseal dysplasia corneal dystrophy …

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