Intellectual disability-hypotonic facies syndrome, X-linked, 1

MONDO:0010663

A group of X-linked syndromes characterized by severe intellectual deficit and facial dysmorphism, with variable other features.

Also known as: Carpenter-Waziri syndrome, Chudley Lowry Hoar syndrome, Chudley-Lowry syndrome, Chudley-Lowry-Hoar syndrome, Holmes-Gang syndrome, MRXHF1, SFMS, Smith-Fineman-Myers syndrome

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Broader categories

Disease (680) Nervous system disorder (231) Hereditary disease (176) Neurodevelopmental disorder (147) Intellectual disability (133) Syndromic disease (25) X-linked disease (16) Human disease (14) Hereditary neurological disease (6) Disease of genetic or genomic mechanism (2)

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