TaoMedAI/RareMedData huggingface dataset:
Gene: COQ8A
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Autosomal recessive ataxia due to ubiquinone deficiency; Autosomal recessive cerebellar ataxia type 2; SCAR9; Autosomal recessive spinocerebellar ataxia type 9; Autosomal recessive ataxia due to coenzyme Q10 deficiency; ARCA2 (ORPHA:139485)
Gene: COQ8A
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 4 (OMIM:612016)
Gene: COQ8A
Phenotype: Developmental regression (HP:0002376)
Associated disease: Autosomal recessive ataxia due to ubiquinone deficiency; Autosomal recessive cerebellar ataxia type 2; SCAR9; Autosomal recessive spinocerebellar ataxia type 9; Autosomal recessive ataxia due to coenzyme Q10 deficiency; ARCA2 (ORPHA:139485)
Gene: COQ8A
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Autosomal recessive ataxia due to ubiquinone deficiency; Autosomal recessive cerebellar ataxia type 2; SCAR9; Autosomal recessive spinocerebellar ataxia type 9; Autosomal recessive ataxia due to coenzyme Q10 deficiency; ARCA2 (ORPHA:139485)
Gene: COQ8A
Phenotype: Generalized tonic seizure (HP:0010818)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 4 (OMIM:612016)
Gene: COQ8A
Phenotype: Gynecomastia (HP:0000771)
Associated disease: Autosomal recessive ataxia due to ubiquinone deficiency; Autosomal recessive cerebellar ataxia type 2; SCAR9; Autosomal recessive spinocerebellar ataxia type 9; Autosomal recessive ataxia due to coenzyme Q10 deficiency; ARCA2 (ORPHA:139485)
Gene: COQ8A
Phenotype: Childhood onset (HP:0011463)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 4 (OMIM:612016)
Gene: COQ8A
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Autosomal recessive ataxia due to ubiquinone deficiency; Autosomal recessive cerebellar ataxia type 2; SCAR9; Autosomal recessive spinocerebellar ataxia type 9; Autosomal recessive ataxia due to coenzyme Q10 deficiency; ARCA2 (ORPHA:139485)
Gene: COQ8A
Phenotype: Focal T2 hypointense basal ganglia lesion (HP:0012752)
Associated disease: Autosomal recessive ataxia due to ubiquinone deficiency; Autosomal recessive cerebellar ataxia type 2; SCAR9; Autosomal recessive spinocerebellar ataxia type 9; Autosomal recessive ataxia due to coenzyme Q10 deficiency; ARCA2 (ORPHA:139485)
Gene: COQ8A
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: Autosomal recessive ataxia due to ubiquinone deficiency; Autosomal recessive cerebellar ataxia type 2; SCAR9; Autosomal recessive spinocerebellar ataxia type 9; Autosomal recessive ataxia due to coenzyme Q10 deficiency; ARCA2 (ORPHA:139485)
Gene: COQ8A
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 4 (OMIM:612016)
Gene: COQ8A
Phenotype: Epilepsia partialis continua (HP:0012847)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 4 (OMIM:612016)
Gene: COQ8A
Phenotype: Decreased level of coenzyme Q10 in skeletal muscle (HP:0034369)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 4 (OMIM:612016)
Gene: COQ8A
Phenotype: Increased intramyocellular lipid droplets (HP:0012240)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 4 (OMIM:612016)
Gene: COQ8A
Phenotype: Elevated lactate:pyruvate ratio (HP:0032653)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 4 (OMIM:612016)
Gene: COQ8A
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Autosomal recessive ataxia due to ubiquinone deficiency; Autosomal recessive cerebellar ataxia type 2; SCAR9; Autosomal recessive spinocerebellar ataxia type 9; Autosomal recessive ataxia due to coenzyme Q10 deficiency; ARCA2 (ORPHA:139485)
Gene: COQ8A
Phenotype: Strabismus (HP:0000486)
Associated disease: Autosomal recessive ataxia due to ubiquinone deficiency; Autosomal recessive cerebellar ataxia type 2; SCAR9; Autosomal recessive spinocerebellar ataxia type 9; Autosomal recessive ataxia due to coenzyme Q10 deficiency; ARCA2 (ORPHA:139485)
Gene: COQ8A
Phenotype: Strabismus (HP:0000486)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 4 (OMIM:612016)
Gene: COQ8A
Phenotype: Pes cavus (HP:0001761)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 4 (OMIM:612016)
Gene: COQ8A
Phenotype: Ptosis (HP:0000508)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 4 (OMIM:612016)
Gene: CCDC47
Phenotype: Simple ear (HP:0020206)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Seizure (HP:0001250)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Hypotonia (HP:0001252)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Hypoplastic nipples (HP:0002557)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Steatorrhea (HP:0002570)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Absent speech (HP:0001344)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Scoliosis (HP:0002650)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Macroglossia (HP:0000158)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Wide mouth (HP:0000154)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Decreased liver function (HP:0001410)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Recurrent infections (HP:0002719)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Midface retrusion (HP:0011800)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Absent Achilles reflex (HP:0003438)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Thoracic hypertrichosis (HP:0011914)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Central sleep apnea (HP:0010536)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Fibular bowing (HP:0010502)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Woolly hair (HP:0002224)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Curly hair (HP:0002212)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Coarse hair (HP:0002208)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Bilateral coxa valga (HP:0010665)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: EEG abnormality (HP:0002353)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Cholelithiasis (HP:0001081)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Dental crowding (HP:0000678)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Microdontia (HP:0000691)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Ectropion (HP:0000656)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Synophrys (HP:0000664)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Decreased body weight (HP:0004325)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Distal arthrogryposis (HP:0005684)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Recurrent pancreatitis (HP:0100027)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Narrow chest (HP:0000774)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Pruritus (HP:0000989)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Epicanthus (HP:0000286)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Coarse facial features (HP:0000280)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Hip dislocation (HP:0002827)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Microcephaly (HP:0000252)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Brachycephaly (HP:0000248)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Increased serum bile acid concentration (HP:0012202)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: High palate (HP:0000218)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Obstructive sleep apnea (HP:0002870)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Almond-shaped palpebral fissure (HP:0007874)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Low-set ears (HP:0000369)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Narrow forehead (HP:0000341)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Hypertelorism (HP:0000316)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Premature birth (HP:0001622)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Exocrine pancreatic insufficiency (HP:0001738)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Astigmatism (HP:0000483)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Short foot (HP:0001773)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Bulbous nose (HP:0000414)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Splenomegaly (HP:0001744)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Overlapping toe (HP:0001845)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Long eyelashes (HP:0000527)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Ptosis (HP:0000508)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: CCDC47
Phenotype: Hypermetropia (HP:0000540)
Associated disease: TRICHOHEPATONEURODEVELOPMENTAL SYNDROME (OMIM:618268)
Gene: ACKR3
Phenotype: Duane anomaly (HP:0009921)
Associated disease: OCULOMOTOR-ABDUCENS SYNKINESIS (OMIM:619215)
Gene: ACKR3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OCULOMOTOR-ABDUCENS SYNKINESIS (OMIM:619215)
Gene: ACKR3
Phenotype: Oculomotor synkinesis (HP:0033851)
Associated disease: OCULOMOTOR-ABDUCENS SYNKINESIS (OMIM:619215)
Gene: ACKR3
Phenotype: Congenital onset (HP:0003577)
Associated disease: OCULOMOTOR-ABDUCENS SYNKINESIS (OMIM:619215)
Gene: ACKR3
Phenotype: Ptosis (HP:0000508)
Associated disease: OCULOMOTOR-ABDUCENS SYNKINESIS (OMIM:619215)
Gene: CABP4
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CABP4
Phenotype: Confusional arousal (HP:0025237)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CABP4
Phenotype: Somnambulism (HP:0025236)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CABP4
Phenotype: NREM parasomnia (HP:0025235)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CABP4
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CABP4
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CABP4
Phenotype: Psychotic mentation (HP:0001345)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CABP4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONE-ROD SYNAPTIC DISORDER, CONGENITAL NONPROGRESSIVE (OMIM:610427)
Gene: CABP4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CABP4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CABP4
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CABP4
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CABP4
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: CABP4
Phenotype: Congenital stationary night blindness (HP:0007642)
Associated disease: CONE-ROD SYNAPTIC DISORDER, CONGENITAL NONPROGRESSIVE (OMIM:610427)
Gene: CABP4
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CABP4
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CABP4
Phenotype: Paroxysmal dystonia (HP:0002268)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CABP4
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CABP4
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CABP4
Phenotype: Nystagmus (HP:0000639)
Associated disease: CONE-ROD SYNAPTIC DISORDER, CONGENITAL NONPROGRESSIVE (OMIM:610427)
Gene: CABP4
Phenotype: Nystagmus (HP:0000639)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: CABP4
Phenotype: Photophobia (HP:0000613)
Associated disease: CONE-ROD SYNAPTIC DISORDER, CONGENITAL NONPROGRESSIVE (OMIM:610427)
Gene: CABP4
Phenotype: Abnormal dark-adapted electroretinogram (HP:0030469)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: CABP4
Phenotype: Reduced amplitude of dark-adapted bright flash electroretinogram a-wave (HP:0030483)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: CABP4
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CABP4
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: CABP4
Phenotype: Nocturnal seizures (HP:0031951)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CABP4
Phenotype: Congenital stationary night blindness with abnormal fundus (HP:0030639)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: CABP4
Phenotype: Congenital stationary night blindness with normal fundus (HP:0030638)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: CABP4
Phenotype: Involuntary movements (HP:0004305)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CABP4
Phenotype: Anxiety (HP:0000739)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CABP4
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CABP4
Phenotype: Depression (HP:0000716)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CABP4
Phenotype: Atypical behavior (HP:0000708)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CABP4
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CABP4
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CABP4
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: CABP4
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CABP4
Phenotype: Hyperventilation (HP:0002883)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CABP4
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CABP4
Phenotype: Increased theta frequency activity in EEG (HP:0031535)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CABP4
Phenotype: EEG with focal spikes (HP:0011193)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CABP4
Phenotype: Interictal epileptiform activity (HP:0011182)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CABP4
Phenotype: Focal hyperkinetic seizure (HP:0011174)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CABP4
Phenotype: Retinal thinning (HP:0030329)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: CABP4
Phenotype: Electronegative electroretinogram (HP:0007984)
Associated disease: CONE-ROD SYNAPTIC DISORDER, CONGENITAL NONPROGRESSIVE (OMIM:610427)
Gene: CABP4
Phenotype: Electronegative electroretinogram (HP:0007984)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: CABP4
Phenotype: Strabismus (HP:0000486)
Associated disease: CONE-ROD SYNAPTIC DISORDER, CONGENITAL NONPROGRESSIVE (OMIM:610427)
Gene: CABP4
Phenotype: Strabismus (HP:0000486)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: CABP4
Phenotype: Suicidal ideation (HP:0031589)
Associated disease: ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy; Autosomal dominant nocturnal frontal lobe epilepsy (ORPHA:98784)
Gene: CABP4
Phenotype: Compensatory head posture (HP:0031705)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: CABP4
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)