Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN
MONDO:09711380 clinical trials for this condition and its sub-types.
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Disease
(717)
Metabolic disease
(241)
Hereditary disease
(188)
Inborn errors of metabolism
(47)
Human disease
(15)
Developmental defect during embryogenesis
(8)
Disease of genetic or genomic mechanism
(2)
Multiple congenital anomalies/dysmorphic syndrome
(1)
Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
(1)
Developmental anomaly of metabolic origin
(0)
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