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Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities(NEDCASB)

MedGen UID:
1750805
Concept ID:
C5436848
Disease or Syndrome
Synonyms: NEDCASB; NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES
 
SHMT2 (12q13.3)
 
Monarch Initiative: MONDO:0030866
OMIM®: 619121

Definition

Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities (NEDCASB) is an autosomal recessive multisystemic disorder characterized by global neurodevelopmental delay, severely impaired intellectual development, poor overall growth, and spasticity of the lower limbs resulting in gait difficulties. Most affected individuals also develop progressive hypertrophic cardiomyopathy in childhood or have cardiac developmental anomalies. Additional more variable features include dysmorphic facies and axonal sensory peripheral neuropathy. Brain imaging tends to show thin corpus callosum and polymicrogyria (summary by Garcia-Cazorla et al., 2020). [from OMIM]

Clinical features

From HPO

Recent clinical studies

Diagnosis

McMacken G, Lochmüller H, Bansagi B, Pyle A, Lochmüller A, Chinnery PF, Laurie S, Beltran S, Matalonga L, Horvath R
J Neurol 2020 Dec;267(12):3643-3649. Epub 2020 Jul 12 doi: 10.1007/s00415-020-10059-3. PMID: 32656641Free PMC Article

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