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NEDDFSA
MCID: NRD083
MIFTS: 17
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Neurodevelopmental Disorder with Dysmorphic Facies and Distal Skeletal Anomalies (NEDDFSA)
Categories:
Bone diseases, Genetic diseases, Neuronal diseases
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Aliases & Classifications for Neurodevelopmental Disorder with Dysmorphic Facies and Distal...
MalaCards integrated aliases for Neurodevelopmental Disorder with Dysmorphic Facies and Distal Skeletal Anomalies:
Name: Neurodevelopmental Disorder with Dysmorphic Facies and Distal Skeletal Anomalies
56
6
Characteristics:OMIM:56
Inheritance:
autosomal dominant
Miscellaneous:
onset in infancy highly variable phenotype de novo mutation Classifications: |
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OMIM :
56
Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies (NEDDFSA) is a global neurodevelopmental disorder with highly variable features. Patients often show poor feeding, poor overall growth, and hypotonia from early infancy, followed by mildly delayed motor development, poor language acquisition, and behavioral abnormalities. Intellectual development varies from severe with absent speech to mild with the ability to attend special schools. Common features include dysmorphic facial features with notable eye anomalies, joint hypermobility, and mild skeletal anomalies of the hands and feet (summary by Carapito et al., 2019). (618659)
MalaCards based summary : Neurodevelopmental Disorder with Dysmorphic Facies and Distal Skeletal Anomalies, is also known as neddfsa. An important gene associated with Neurodevelopmental Disorder with Dysmorphic Facies and Distal Skeletal Anomalies is ZMIZ1 (Zinc Finger MIZ-Type Containing 1). Affiliated tissues include eye, brain and heart. |
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Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:618659 |
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MalaCards organs/tissues related to Neurodevelopmental Disorder with Dysmorphic Facies and Distal Skeletal Anomalies:40
Eye,
Brain,
Heart,
Kidney
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Articles related to Neurodevelopmental Disorder with Dysmorphic Facies and Distal Skeletal Anomalies:
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Genes related to Neurodevelopmental Disorder with Dysmorphic Facies and Distal Skeletal Anomalies (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Neurodevelopmental Disorder with Dysmorphic Facies and Distal Skeletal Anomalies:6
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Search
GEO
for disease gene expression data for Neurodevelopmental Disorder with Dysmorphic Facies and Distal Skeletal Anomalies.
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