Aase-Smith syndrome
MONDO:0007839Aase-Smith syndrome type I is a very rare genetic disorder characterized by the following congenital malformations: hydrocephalus (due to Dandy-Walker anomaly), cleft palate, and severe joint contractures.
Also known as: Aase-Smith I syndrome, Aase-Smith syndrome, Aase-Smith syndrome type 1, hydrocephalus-cleft palate-joint contractures syndrome, Aase-Smith syndrome 1, Aase-Smith syndrome I, Joint contractures with Other abnormalities
1 clinical trial for this condition and its sub-types.
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Disease
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Nervous system disorder
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Human disease
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Developmental defect during embryogenesis
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Central nervous system malformation
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Congenital nervous system disorder
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Multiple congenital anomalies/dysmorphic syndrome
(1)
Disease by body system or component
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Disease by developmental or physiological process
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Disorder of development or morphogenesis
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