lysine demethylase 6A
OMIM: 300128, Gene2Phenotype
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KDM6A in Kabuki syndrome
Level 3: Kabuki
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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Phenotypes
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KDM6A in IUGR and IGF abnormalities
Level 3: Growth hormone disorders
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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Phenotypes
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KDM6A in COVID-19 research
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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Phenotypes
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KDM6A in Deafness and congenital structural abnormalities
Level 3: Deafness and congenital structural abnormalities
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
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Phenotypes
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KDM6A in Congenital hyperinsulinism
Level 3: Disorders of unusual phenotypes
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
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Phenotypes
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KDM6A in Primary immunodeficiency or monogenic inflammatory bowel disease
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
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KDM6A in Autism
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review | Not set |
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KDM6A in Cytopenias and congenital anaemias
Level 3: Anaemias and red cell disorders
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review | Unknown |
Sources
Phenotypes
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KDM6A in CAKUT
Level 3: Structural renal and urinary tract disease
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
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KDM6A in Fetal anomalies
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
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KDM6A in Rare syndromic craniosynostosis or isolated multisuture synostosis
Level 3: Craniosynostosis syndromes
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review | Not set |
Sources
Phenotypes
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KDM6A in Osteogenesis imperfecta
Level 3: Skeletal dysplasias
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review | Not set |
Sources
Phenotypes
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KDM6A in DDG2P
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
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KDM6A in Clefting
Level 3: Dysmorphic disorders
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
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KDM6A in Growth failure in early childhood
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
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KDM6A in Intellectual disability - microarray and sequencing
Level 3: Neurodevelopmental disorders
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
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KDM6A in Structural eye disease
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
Sources
Phenotypes
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KDM6A in Severe Paediatric Disorders
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
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