OFD1, centriole and centriolar satellite protein
OMIM: 300170, Gene2Phenotype
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OFD1 in Glaucoma (developmental)
Level 3: Anterior segment abnormalities
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review | Not set |
Sources
Phenotypes
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OFD1 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) |
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Phenotypes
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OFD1 in Thoracic dystrophies
Level 3: Skeletal dysplasias
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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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OFD1 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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OFD1 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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OFD1 in Pigmentary skin disorders
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review | Not set |
Sources
Phenotypes
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OFD1 in Ductal plate malformation
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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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OFD1 in Cystic kidney disease
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
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OFD1 in Autism
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review | Not set |
Sources
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OFD1 in Unexplained kidney failure in young people
Level 3: Disorders of function
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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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OFD1 in Ocular coloboma
Level 3: Ocular malformations
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review | Other - please specifiy in evaluation comments |
Sources
Phenotypes
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OFD1 in Primary ciliary disorders
Level 3: Respiratory ciliopathies
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review | Not set |
Sources
Phenotypes
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OFD1 in Respiratory ciliopathies including non-CF bronchiectasis
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
Sources
Phenotypes
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OFD1 in Skeletal dysplasia
Level 3: Skeletal dysplasias
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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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OFD1 in Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
Level 3: Beckwith-Wiedemann syndrome (BWS) and other congenital overgrowth disorders
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
Sources
Phenotypes
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OFD1 in Unexplained young onset end-stage renal 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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OFD1 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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OFD1 in Osteogenesis imperfecta
Level 3: Skeletal dysplasias
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review | Not set |
Sources
Phenotypes
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OFD1 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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OFD1 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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OFD1 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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OFD1 in Retinal disorders
Level 3: Posterior segment abnormalities
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
Sources
Phenotypes
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OFD1 in Structural eye disease
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
Sources
Phenotypes
Tags |
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OFD1 in Rare multisystem ciliopathy disorders
Level 3: Congenital malformations caused by ciliopathies
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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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OFD1 in Ophthalmological ciliopathies
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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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OFD1 in Neurological ciliopathies
Level 3: Congenital malformations caused by ciliopathies
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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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OFD1 in Renal ciliopathies
Level 3: Congenital malformations caused by ciliopathies
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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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OFD1 in Childhood onset dystonia, chorea or related movement disorder
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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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OFD1 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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