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Mowat-Wilson syndrome

MONDO:0009341

Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR) and variable congenital malformations.

Also known as: Hirschsprung disease intellectual disability syndrome, Hirschsprung disease-intellectual disability syndrome, Mowat-Wilson syndrome, microcephaly, intellectual disability, and distinct facial featrues, with or without Hirschprung disease, Hirschsprung disease-mental retardation syndrome, MOWS, intellectual disability, microcephaly, and distinct facial features with or without Hirschsprung disease, mental retardation, microcephaly, and distinct facial features with or without Hirschsprung disease

9 clinical trials for this condition and its sub-types.

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Sub-types

Mowat-Wilson syndrome due to a ZEB2 point mutation (0) Mowat-Wilson syndrome due to monosomy 2q22 (0)

Broader categories

Disease (680) Epilepsy (438) Nervous system disorder (231) Hereditary disease (176) Neurodevelopmental disorder (147) Intellectual disability (133) Brain disorder (125) Central nervous system disorder (107) Syndromic disease (25) Human disease (14)
Trials to join now! 4 Not yet recruiting 1 Not yet finished but already full! 3 Completed 1
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