ubiquitin specific peptidase 9, X-linked
OMIM: 300072, Gene2Phenotype
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USP9X in Choanal atresia
Level 3: Choanal 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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USP9X in Hydrocephalus
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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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USP9X in Limb 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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USP9X in Pigmentary skin 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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USP9X in Skeletal dysplasia
Level 3: Skeletal dysplasias
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review | Not set |
SourcesPhenotypes
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USP9X 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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USP9X 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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USP9X 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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USP9X 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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USP9X in Severe Paediatric Disorders
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
Sources
Phenotypes
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