Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination (NECFM)

Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination(来自ICD-11)
别称:
Necfm
Severe Neurodevelopmental Disorder with Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
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Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination, is also known as necfm. An important gene associated with Neurodevelopmental Disorder with Epilepsy, Cataracts, Feeding Difficulties, and Delayed Brain Myelination is NACC1 (Nucleus Accumbens Associated 1). Affiliated tissues include brain and eye, and related phenotypes are seizure and failure to thrive
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参考文献
MALACARDS
AD
Newborn
<1/1000000
1
5
1

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