TaoMedAI/RareMedData huggingface dataset:
Gene: PIGY
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGY
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGY
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGY
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6 (OMIM:616809)
Gene: PIGY
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6 (OMIM:616809)
Gene: PIGY
Phenotype: Hip contracture (HP:0003273)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6 (OMIM:616809)
Gene: PIGY
Phenotype: Osteopenia (HP:0000938)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6 (OMIM:616809)
Gene: PIGY
Phenotype: Increased head circumference (HP:0040194)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGY
Phenotype: Decreased head circumference (HP:0040195)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGY
Phenotype: Epicanthus (HP:0000286)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGY
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGY
Phenotype: Broad philtrum (HP:0000289)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGY
Phenotype: Clinodactyly (HP:0030084)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGY
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6 (OMIM:616809)
Gene: PIGY
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGY
Phenotype: High palate (HP:0000218)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGY
Phenotype: High palate (HP:0000218)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6 (OMIM:616809)
Gene: PIGY
Phenotype: Anteriorly placed anus (HP:0001545)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGY
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGY
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6 (OMIM:616809)
Gene: PIGY
Phenotype: Death in infancy (HP:0001522)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6 (OMIM:616809)
Gene: PIGY
Phenotype: Growth delay (HP:0001510)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGY
Phenotype: Growth delay (HP:0001510)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6 (OMIM:616809)
Gene: PIGY
Phenotype: Cupped ear (HP:0000378)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGY
Phenotype: Thickened helices (HP:0000391)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGY
Phenotype: Chronic lung disease (HP:0006528)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6 (OMIM:616809)
Gene: PIGY
Phenotype: Narrow forehead (HP:0000341)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6 (OMIM:616809)
Gene: PIGY
Phenotype: Micrognathia (HP:0000347)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGY
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGY
Phenotype: Round face (HP:0000311)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGY
Phenotype: Elbow flexion contracture (HP:0002987)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6 (OMIM:616809)
Gene: PIGY
Phenotype: Short philtrum (HP:0000322)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGY
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGY
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6 (OMIM:616809)
Gene: PIGY
Phenotype: Deeply set eye (HP:0000490)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6 (OMIM:616809)
Gene: PIGY
Phenotype: Small nail (HP:0001792)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGY
Phenotype: Anteverted nares (HP:0000463)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6 (OMIM:616809)
Gene: PIGY
Phenotype: Short neck (HP:0000470)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGY
Phenotype: Short neck (HP:0000470)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6 (OMIM:616809)
Gene: PIGY
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6 (OMIM:616809)
Gene: PIGY
Phenotype: Bulbous nose (HP:0000414)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGY
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGY
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGY
Phenotype: Developmental cataract (HP:0000519)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6 (OMIM:616809)
Gene: PIGY
Phenotype: Visual impairment (HP:0000505)
Associated disease: HYPERPHOSPHATASIA WITH MENTAL RETARDATION SYNDROME 6 (OMIM:616809)
Gene: PIGY
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGY
Phenotype: Shallow anterior chamber (HP:0000594)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGY
Phenotype: Esotropia (HP:0000565)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PIGY
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Hyperphosphatasia-intellectual disability syndrome; Mabry syndrome (ORPHA:247262)
Gene: PHYKPL
Phenotype: Elevated urinary phosphohydroxylysine level (HP:6000806)
Associated disease: PHOSPHOHYDROXYLYSINURIA (OMIM:615011)
Gene: PHYKPL
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PHOSPHOHYDROXYLYSINURIA (OMIM:615011)
Gene: PHYKPL
Phenotype: Phosphohydroxylysinuria (HP:0031870)
Associated disease: PHOSPHOHYDROXYLYSINURIA (OMIM:615011)
Gene: USP45
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: USP45
Phenotype: Severely reduced visual acuity (HP:0001141)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: USP45
Phenotype: Motor delay (HP:0001270)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: USP45
Phenotype: Seizure (HP:0001250)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: USP45
Phenotype: Hypotonia (HP:0001252)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: USP45
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: USP45
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: USP45
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: USP45
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LEBER CONGENITAL AMAUROSIS 19 (OMIM:618513)
Gene: USP45
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: USP45
Phenotype: Eye poking (HP:0001483)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: USP45
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: USP45
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: USP45
Phenotype: Encephalocele (HP:0002084)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: USP45
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: USP45
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: USP45
Phenotype: Aplasia/Hypoplasia of the cerebellar vermis (HP:0006817)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: USP45
Phenotype: Nystagmus (HP:0000639)
Associated disease: LEBER CONGENITAL AMAUROSIS 19 (OMIM:618513)
Gene: USP45
Phenotype: Nystagmus (HP:0000639)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: USP45
Phenotype: Photophobia (HP:0000613)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: USP45
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: USP45
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: USP45
Phenotype: Decreased light- and dark-adapted electroretinogram amplitude (HP:0000654)
Associated disease: LEBER CONGENITAL AMAUROSIS 19 (OMIM:618513)
Gene: USP45
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: USP45
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: USP45
Phenotype: Abnormal optic disc morphology (HP:0012795)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: USP45
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: USP45
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: USP45
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: USP45
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: USP45
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: LEBER CONGENITAL AMAUROSIS 19 (OMIM:618513)
Gene: USP45
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: USP45
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: USP45
Phenotype: Slow pupillary light response (HP:0030211)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: USP45
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: USP45
Phenotype: Cataract (HP:0000518)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: USP45
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: USP45
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: USP45
Phenotype: Visual impairment (HP:0000505)
Associated disease: LEBER CONGENITAL AMAUROSIS 19 (OMIM:618513)
Gene: USP45
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: USP45
Phenotype: Keratoconus (HP:0000563)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: USP45
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: USP45
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: LEBER CONGENITAL AMAUROSIS 19 (OMIM:618513)
Gene: USP45
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: LEBER CONGENITAL AMAUROSIS 19 (OMIM:618513)
Gene: USP45
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: USP45
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: USP45
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CFAP300
Phenotype: Peribronchovascular interstitial thickening (HP:0025177)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP300
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP300
Phenotype: Clubbing (HP:0001217)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP300
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 38 (OMIM:618063)
Gene: CFAP300
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 38 (OMIM:618063)
Gene: CFAP300
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP300
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP300
Phenotype: Lithoptysis (HP:0032543)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP300
Phenotype: Productive cough (HP:0031245)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP300
Phenotype: Productive cough (HP:0031245)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 38 (OMIM:618063)
Gene: CFAP300
Phenotype: Morphological central nervous system abnormality (HP:0002011)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP300
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP300
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP300
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 38 (OMIM:618063)
Gene: CFAP300
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP300
Phenotype: Female infertility (HP:0008222)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP300
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP300
Phenotype: Atelectasis (HP:0100750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP300
Phenotype: Abnormal sputum (HP:0032016)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP300
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP300
Phenotype: Anomalous pulmonary venous return (HP:0010772)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP300
Phenotype: Neonatal onset (HP:0003623)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 38 (OMIM:618063)
Gene: CFAP300
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP300
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP300
Phenotype: Infertility (HP:0000789)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 38 (OMIM:618063)
Gene: CFAP300
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP300
Phenotype: Atrial situs ambiguous (HP:0011539)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP300
Phenotype: Abnormal atrial arrangement (HP:0011535)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP300
Phenotype: Wheezing (HP:0030828)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP300
Phenotype: Male infertility (HP:0003251)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP300
Phenotype: Pulmonary situs ambiguus (HP:0011617)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP300
Phenotype: Decreased nasal nitric oxide (HP:0033036)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 38 (OMIM:618063)
Gene: CFAP300
Phenotype: Abnormal inferior vena cava morphology (HP:0025576)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP300
Phenotype: Absent inner and outer dynein arms (HP:0012259)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 38 (OMIM:618063)
Gene: CFAP300
Phenotype: Immotile cilia (HP:0012263)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 38 (OMIM:618063)
Gene: CFAP300
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP300
Phenotype: Abnormal sperm motility (HP:0012206)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP300
Phenotype: Respiratory failure (HP:0002878)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP300
Phenotype: Rhinitis (HP:0012384)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 38 (OMIM:618063)
Gene: CFAP300
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 38 (OMIM:618063)
Gene: CFAP300
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP300
Phenotype: Airway obstruction (HP:0006536)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP300
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 38 (OMIM:618063)
Gene: CFAP300
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP300
Phenotype: Hearing impairment (HP:0000365)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP300
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP300
Phenotype: Ectopic pregnancy (HP:0031456)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP300
Phenotype: Dextrocardia (HP:0001651)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 38 (OMIM:618063)
Gene: CFAP300
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP300
Phenotype: Persistent left superior vena cava (HP:0005301)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP300
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP300
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 38 (OMIM:618063)
Gene: CFAP300
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP300
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP300
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 38 (OMIM:618063)
Gene: CFAP300
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP300
Phenotype: Asplenia (HP:0001746)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP300
Phenotype: Polysplenia (HP:0001748)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP300
Phenotype: Nasal congestion (HP:0001742)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP300
Phenotype: Recurrent sinopulmonary infections (HP:0005425)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP300
Phenotype: Recurrent mycobacterial infections (HP:0011274)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP300
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: REPS1
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7 (OMIM:617916)
Gene: REPS1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7 (OMIM:617916)
Gene: REPS1
Phenotype: Motor delay (HP:0001270)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7 (OMIM:617916)
Gene: REPS1
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7 (OMIM:617916)
Gene: REPS1
Phenotype: Ataxia (HP:0001251)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7 (OMIM:617916)
Gene: REPS1
Phenotype: Dysarthria (HP:0001260)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7 (OMIM:617916)
Gene: REPS1
Phenotype: Increased circulating very long-chain fatty acid concentration (HP:0033643)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7 (OMIM:617916)
Gene: REPS1
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7 (OMIM:617916)
Gene: REPS1
Phenotype: Spinocerebellar tract degeneration (HP:0002503)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7 (OMIM:617916)
Gene: REPS1
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7 (OMIM:617916)
Gene: REPS1
Phenotype: Dystonia (HP:0001332)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7 (OMIM:617916)
Gene: REPS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7 (OMIM:617916)
Gene: REPS1
Phenotype: Tremor (HP:0001337)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7 (OMIM:617916)
Gene: REPS1
Phenotype: Dysmetria (HP:0001310)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7 (OMIM:617916)
Gene: REPS1
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7 (OMIM:617916)
Gene: REPS1
Phenotype: Dysphagia (HP:0002015)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7 (OMIM:617916)
Gene: REPS1
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7 (OMIM:617916)
Gene: REPS1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7 (OMIM:617916)