TaoMedAI/RareMedData huggingface dataset:
Gene: ZC4H2
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED (OMIM:301041)
Gene: ZC4H2
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED (OMIM:301041)
Gene: ZC4H2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZC4H2
Phenotype: Strabismus (HP:0000486)
Associated disease: Foot contractures-muscle atrophy-oculomotor apraxia syndrome; Wieacker-Wolff syndrome (ORPHA:3454)
Gene: ZC4H2
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: Foot contractures-muscle atrophy-oculomotor apraxia syndrome; Wieacker-Wolff syndrome (ORPHA:3454)
Gene: ZC4H2
Phenotype: Deeply set eye (HP:0000490)
Associated disease: WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED (OMIM:301041)
Gene: ZC4H2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED (OMIM:301041)
Gene: ZC4H2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: WIEACKER-WOLFF SYNDROME (OMIM:314580)
Gene: ZC4H2
Phenotype: Delayed myelination (HP:0012448)
Associated disease: WIEACKER-WOLFF SYNDROME (OMIM:314580)
Gene: ZC4H2
Phenotype: Brain atrophy (HP:0012444)
Associated disease: WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED (OMIM:301041)
Gene: ZC4H2
Phenotype: Short neck (HP:0000470)
Associated disease: WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED (OMIM:301041)
Gene: ZC4H2
Phenotype: Short neck (HP:0000470)
Associated disease: WIEACKER-WOLFF SYNDROME (OMIM:314580)
Gene: ZC4H2
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZC4H2
Phenotype: Achilles tendon contracture (HP:0001771)
Associated disease: WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED (OMIM:301041)
Gene: ZC4H2
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZC4H2
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZC4H2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED (OMIM:301041)
Gene: ZC4H2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: WIEACKER-WOLFF SYNDROME (OMIM:314580)
Gene: ZC4H2
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZC4H2
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ZC4H2
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZC4H2
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED (OMIM:301041)
Gene: ZC4H2
Phenotype: Ptosis (HP:0000508)
Associated disease: Foot contractures-muscle atrophy-oculomotor apraxia syndrome; Wieacker-Wolff syndrome (ORPHA:3454)
Gene: ZC4H2
Phenotype: Ptosis (HP:0000508)
Associated disease: WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED (OMIM:301041)
Gene: ZC4H2
Phenotype: Ptosis (HP:0000508)
Associated disease: WIEACKER-WOLFF SYNDROME (OMIM:314580)
Gene: ZC4H2
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: WIEACKER-WOLFF SYNDROME (OMIM:314580)
Gene: ZC4H2
Phenotype: Exotropia (HP:0000577)
Associated disease: WIEACKER-WOLFF SYNDROME (OMIM:314580)
Gene: ZC4H2
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZC4H2
Phenotype: Hypermetropia (HP:0000540)
Associated disease: WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED (OMIM:301041)
Gene: ZC4H2
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ZC4H2
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: KLHL9
Phenotype: Gait disturbance (HP:0001288)
Associated disease: KLHL9-related early-onset distal myopathy (ORPHA:399081)
Gene: KLHL9
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: KLHL9-related early-onset distal myopathy (ORPHA:399081)
Gene: KLHL9
Phenotype: Intrinsic hand muscle atrophy (HP:0008954)
Associated disease: KLHL9-related early-onset distal myopathy (ORPHA:399081)
Gene: KLHL9
Phenotype: Abnormal calf musculature morphology (HP:0001430)
Associated disease: KLHL9-related early-onset distal myopathy (ORPHA:399081)
Gene: KLHL9
Phenotype: Steppage gait (HP:0003376)
Associated disease: KLHL9-related early-onset distal myopathy (ORPHA:399081)
Gene: KLHL9
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: KLHL9-related early-onset distal myopathy (ORPHA:399081)
Gene: KLHL9
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: KLHL9-related early-onset distal myopathy (ORPHA:399081)
Gene: KLHL9
Phenotype: Absent Achilles reflex (HP:0003438)
Associated disease: KLHL9-related early-onset distal myopathy (ORPHA:399081)
Gene: KLHL9
Phenotype: Impaired vibration sensation in the lower limbs (HP:0002166)
Associated disease: KLHL9-related early-onset distal myopathy (ORPHA:399081)
Gene: KLHL9
Phenotype: Absent patellar reflexes (HP:0006844)
Associated disease: KLHL9-related early-onset distal myopathy (ORPHA:399081)
Gene: KLHL9
Phenotype: Progressive distal muscle weakness (HP:0009063)
Associated disease: KLHL9-related early-onset distal myopathy (ORPHA:399081)
Gene: KLHL9
Phenotype: Amyotrophy of ankle musculature (HP:0009031)
Associated disease: KLHL9-related early-onset distal myopathy (ORPHA:399081)
Gene: KLHL9
Phenotype: Weakness of the intrinsic hand muscles (HP:0009005)
Associated disease: KLHL9-related early-onset distal myopathy (ORPHA:399081)
Gene: KLHL9
Phenotype: Impaired distal tactile sensation (HP:0006937)
Associated disease: KLHL9-related early-onset distal myopathy (ORPHA:399081)
Gene: KLHL9
Phenotype: Abnormal circulating creatine kinase concentration (HP:0040081)
Associated disease: KLHL9-related early-onset distal myopathy (ORPHA:399081)
Gene: KLHL9
Phenotype: Ankle flexion contracture (HP:0006466)
Associated disease: KLHL9-related early-onset distal myopathy (ORPHA:399081)
Gene: KLHL9
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: KLHL9-related early-onset distal myopathy (ORPHA:399081)
Gene: NDUFA12
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23 (OMIM:618244)
Gene: NDUFA12
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23 (OMIM:618244)
Gene: NDUFA12
Phenotype: Motor delay (HP:0001270)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23 (OMIM:618244)
Gene: NDUFA12
Phenotype: Hypotonia (HP:0001252)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23 (OMIM:618244)
Gene: NDUFA12
Phenotype: Dystonia (HP:0001332)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23 (OMIM:618244)
Gene: NDUFA12
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23 (OMIM:618244)
Gene: NDUFA12
Phenotype: Scoliosis (HP:0002650)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23 (OMIM:618244)
Gene: NDUFA12
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23 (OMIM:618244)
Gene: NDUFA12
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23 (OMIM:618244)
Gene: NDUFA12
Phenotype: Infantile onset (HP:0003593)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23 (OMIM:618244)
Gene: NDUFA12
Phenotype: Progressive (HP:0003676)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23 (OMIM:618244)
Gene: NDUFA12
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23 (OMIM:618244)
Gene: NDUFA12
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23 (OMIM:618244)
Gene: NDUFA12
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23 (OMIM:618244)
Gene: NDUFA12
Phenotype: Growth delay (HP:0001510)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23 (OMIM:618244)
Gene: RAB5IF
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 (OMIM:616994)
Gene: RAB5IF
Phenotype: Absent speech (HP:0001344)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 (OMIM:616994)
Gene: RAB5IF
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 (OMIM:616994)
Gene: RAB5IF
Phenotype: Cavum septum pellucidum (HP:0002389)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 (OMIM:616994)
Gene: RAB5IF
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 (OMIM:616994)
Gene: RAB5IF
Phenotype: Shield chest (HP:0000914)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 (OMIM:616994)
Gene: RAB5IF
Phenotype: Bilateral cleft lip (HP:0100336)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 (OMIM:616994)
Gene: RAB5IF
Phenotype: Flat face (HP:0012368)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 (OMIM:616994)
Gene: RAB5IF
Phenotype: Thoracic scoliosis (HP:0002943)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 (OMIM:616994)
Gene: RAB5IF
Phenotype: Low-set ears (HP:0000369)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 (OMIM:616994)
Gene: RAB5IF
Phenotype: Short neck (HP:0000470)
Associated disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 (OMIM:616994)
Gene: KLHL7
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KLHL7
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KLHL7
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PERCHING SYNDROME (OMIM:617055)
Gene: KLHL7
Phenotype: Cold-induced sweating (HP:0025278)
Associated disease: PERCHING SYNDROME (OMIM:617055)
Gene: KLHL7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PERCHING SYNDROME (OMIM:617055)
Gene: KLHL7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KLHL7
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 42 (OMIM:612943)
Gene: KLHL7
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KLHL7
Phenotype: Scoliosis (HP:0002650)
Associated disease: PERCHING SYNDROME (OMIM:617055)
Gene: KLHL7
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KLHL7
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KLHL7
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KLHL7
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KLHL7
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 42 (OMIM:612943)
Gene: KLHL7
Phenotype: Peripapillary atrophy (HP:0500087)
Associated disease: RETINITIS PIGMENTOSA 42 (OMIM:612943)
Gene: KLHL7
Phenotype: Dysphagia (HP:0002015)
Associated disease: PERCHING SYNDROME (OMIM:617055)
Gene: KLHL7
Phenotype: Respiratory distress (HP:0002098)
Associated disease: PERCHING SYNDROME (OMIM:617055)
Gene: KLHL7
Phenotype: Middle age onset (HP:0003596)
Associated disease: RETINITIS PIGMENTOSA 42 (OMIM:612943)
Gene: KLHL7
Phenotype: Infantile onset (HP:0003593)
Associated disease: PERCHING SYNDROME (OMIM:617055)
Gene: KLHL7
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: PERCHING SYNDROME (OMIM:617055)
Gene: KLHL7
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KLHL7
Phenotype: Nystagmus (HP:0000639)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KLHL7
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KLHL7
Phenotype: Blindness (HP:0000618)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KLHL7
Phenotype: Photophobia (HP:0000613)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KLHL7
Phenotype: Fever (HP:0001945)
Associated disease: PERCHING SYNDROME (OMIM:617055)
Gene: KLHL7
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KLHL7
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KLHL7
Phenotype: Abnormal central response of multifocal electroretinogram (HP:0030488)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KLHL7
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KLHL7
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KLHL7
Phenotype: Photoreceptor outer segment loss on macular OCT (HP:0030610)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KLHL7
Phenotype: Perifoveal ring of hyperautofluorescence (HP:0030629)
Associated disease: RETINITIS PIGMENTOSA 42 (OMIM:612943)
Gene: KLHL7
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KLHL7
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KLHL7
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 42 (OMIM:612943)
Gene: KLHL7
Phenotype: Photopsia (HP:0030786)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KLHL7
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KLHL7
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: RETINITIS PIGMENTOSA 42 (OMIM:612943)
Gene: KLHL7
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KLHL7
Phenotype: Joint contracture (HP:0034392)
Associated disease: PERCHING SYNDROME (OMIM:617055)
Gene: KLHL7
Phenotype: Cyanosis (HP:0000961)
Associated disease: PERCHING SYNDROME (OMIM:617055)
Gene: KLHL7
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KLHL7
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KLHL7
Phenotype: Full cheeks (HP:0000293)
Associated disease: PERCHING SYNDROME (OMIM:617055)
Gene: KLHL7
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KLHL7
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KLHL7
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KLHL7
Phenotype: High palate (HP:0000218)
Associated disease: PERCHING SYNDROME (OMIM:617055)
Gene: KLHL7
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KLHL7
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KLHL7
Phenotype: Camptodactyly (HP:0012385)
Associated disease: PERCHING SYNDROME (OMIM:617055)
Gene: KLHL7
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KLHL7
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KLHL7
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KLHL7
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: PERCHING SYNDROME (OMIM:617055)
Gene: KLHL7
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KLHL7
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KLHL7
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 42 (OMIM:612943)
Gene: KLHL7
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: PERCHING SYNDROME (OMIM:617055)
Gene: KLHL7
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KLHL7
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KLHL7
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KLHL7
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KLHL7
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KLHL7
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KLHL7
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KLHL7
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KLHL7
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KLHL7
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CFC1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: HETEROTAXY, VISCERAL, 2, AUTOSOMAL (OMIM:605376)
Gene: CFC1
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: HETEROTAXY, VISCERAL, 2, AUTOSOMAL (OMIM:605376)
Gene: CFC1
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: HETEROTAXY, VISCERAL, 2, AUTOSOMAL (OMIM:605376)
Gene: CFC1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: CFC1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HETEROTAXY, VISCERAL, 2, AUTOSOMAL (OMIM:605376)
Gene: CFC1
Phenotype: Abdominal situs inversus (HP:0003363)
Associated disease: HETEROTAXY, VISCERAL, 2, AUTOSOMAL (OMIM:605376)
Gene: CFC1
Phenotype: Congenital onset (HP:0003577)
Associated disease: HETEROTAXY, VISCERAL, 2, AUTOSOMAL (OMIM:605376)
Gene: CFC1
Phenotype: Bilateral superior vena cava (HP:0033379)
Associated disease: HETEROTAXY, VISCERAL, 2, AUTOSOMAL (OMIM:605376)
Gene: CFC1
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: CFC1
Phenotype: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: CFC1
Phenotype: Left atrial isomerism (HP:0011537)
Associated disease: HETEROTAXY, VISCERAL, 2, AUTOSOMAL (OMIM:605376)
Gene: CFC1
Phenotype: Mesocardia (HP:0011599)
Associated disease: HETEROTAXY, VISCERAL, 2, AUTOSOMAL (OMIM:605376)
Gene: CFC1
Phenotype: Microcephaly (HP:0000252)
Associated disease: HETEROTAXY, VISCERAL, 2, AUTOSOMAL (OMIM:605376)
Gene: CFC1
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: HETEROTAXY, VISCERAL, 2, AUTOSOMAL (OMIM:605376)
Gene: CFC1
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: HETEROTAXY, VISCERAL, 2, AUTOSOMAL (OMIM:605376)
Gene: CFC1
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: CFC1
Phenotype: Dextrocardia (HP:0001651)
Associated disease: HETEROTAXY, VISCERAL, 2, AUTOSOMAL (OMIM:605376)
Gene: CFC1
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: CFC1
Phenotype: Atrioventricular canal defect (HP:0006695)
Associated disease: HETEROTAXY, VISCERAL, 2, AUTOSOMAL (OMIM:605376)
Gene: CFC1
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: HETEROTAXY, VISCERAL, 2, AUTOSOMAL (OMIM:605376)
Gene: CFC1
Phenotype: Asplenia (HP:0001746)
Associated disease: HETEROTAXY, VISCERAL, 2, AUTOSOMAL (OMIM:605376)
Gene: CFC1
Phenotype: Polysplenia (HP:0001748)
Associated disease: HETEROTAXY, VISCERAL, 2, AUTOSOMAL (OMIM:605376)
Gene: CFC1
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: SMG9
Phenotype: Hand clenching (HP:0001188)
Associated disease: HEART AND BRAIN MALFORMATION SYNDROME (OMIM:616920)
Gene: SMG9
Phenotype: Brachydactyly (HP:0001156)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES (OMIM:619995)
Gene: SMG9
Phenotype: Attached earlobe (HP:0009907)
Associated disease: HEART AND BRAIN MALFORMATION SYNDROME (OMIM:616920)
Gene: SMG9
Phenotype: Seizure (HP:0001250)
Associated disease: HEART AND BRAIN MALFORMATION SYNDROME (OMIM:616920)
Gene: SMG9
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES (OMIM:619995)
Gene: SMG9
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES (OMIM:619995)
Gene: SMG9
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HEART AND BRAIN MALFORMATION SYNDROME (OMIM:616920)
Gene: SMG9
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: HEART AND BRAIN MALFORMATION SYNDROME (OMIM:616920)
Gene: SMG9
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES (OMIM:619995)
Gene: SMG9
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HEART AND BRAIN MALFORMATION SYNDROME (OMIM:616920)
Gene: SMG9
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES (OMIM:619995)
Gene: SMG9
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: HEART AND BRAIN MALFORMATION SYNDROME (OMIM:616920)
Gene: SMG9
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: HEART AND BRAIN MALFORMATION SYNDROME (OMIM:616920)
Gene: SMG9
Phenotype: Scoliosis (HP:0002650)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES (OMIM:619995)
Gene: SMG9
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: HEART AND BRAIN MALFORMATION SYNDROME (OMIM:616920)
Gene: SMG9
Phenotype: Cleft lip (HP:0410030)
Associated disease: HEART AND BRAIN MALFORMATION SYNDROME (OMIM:616920)
Gene: SMG9
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: HEART AND BRAIN MALFORMATION SYNDROME (OMIM:616920)
Gene: SMG9
Phenotype: High, narrow palate (HP:0002705)
Associated disease: HEART AND BRAIN MALFORMATION SYNDROME (OMIM:616920)
Gene: SMG9
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: HEART AND BRAIN MALFORMATION SYNDROME (OMIM:616920)
Gene: SMG9
Phenotype: Intention tremor (HP:0002080)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES (OMIM:619995)
Gene: SMG9
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: HEART AND BRAIN MALFORMATION SYNDROME (OMIM:616920)
Gene: SMG9
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: HEART AND BRAIN MALFORMATION SYNDROME (OMIM:616920)