TaoMedAI/RareMedData huggingface dataset:
Gene: PITPNM3
Phenotype: Retinal pigment epithelial mottling (HP:0007814)
Associated disease: CONE-ROD DYSTROPHY 5 (OMIM:600977)
Gene: PITPNM3
Phenotype: Metamorphopsia (HP:0012508)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: PITPNM3
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PITPNM3
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: PITPNM3
Phenotype: Visual impairment (HP:0000505)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: PITPNM3
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PITPNM3
Phenotype: Color vision defect (HP:0000551)
Associated disease: CONE-ROD DYSTROPHY 5 (OMIM:600977)
Gene: PITPNM3
Phenotype: Color vision defect (HP:0000551)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: PITPNM3
Phenotype: Cone/cone-rod dystrophy (HP:0000548)
Associated disease: CONE-ROD DYSTROPHY 5 (OMIM:600977)
Gene: PITPNM3
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: PITPNM3
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PITPNM3
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PMFBP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 31 (OMIM:618112)
Gene: PMFBP1
Phenotype: Androgen insufficiency (HP:0008226)
Associated disease: Acephalic spermatozoa syndrome; Male infertility due to acephalic spermatozoa (ORPHA:529970)
Gene: PMFBP1
Phenotype: Oligozoospermia (HP:0000798)
Associated disease: Acephalic spermatozoa syndrome; Male infertility due to acephalic spermatozoa (ORPHA:529970)
Gene: PMFBP1
Phenotype: Abnormal sperm mid-piece morphology (HP:0012867)
Associated disease: Acephalic spermatozoa syndrome; Male infertility due to acephalic spermatozoa (ORPHA:529970)
Gene: PMFBP1
Phenotype: Acephalic spermatozoa (HP:0012869)
Associated disease: SPERMATOGENIC FAILURE 31 (OMIM:618112)
Gene: PMFBP1
Phenotype: Acephalic spermatozoa (HP:0012869)
Associated disease: Acephalic spermatozoa syndrome; Male infertility due to acephalic spermatozoa (ORPHA:529970)
Gene: PMFBP1
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 31 (OMIM:618112)
Gene: PMFBP1
Phenotype: Male infertility (HP:0003251)
Associated disease: Acephalic spermatozoa syndrome; Male infertility due to acephalic spermatozoa (ORPHA:529970)
Gene: PMFBP1
Phenotype: Reduced sperm motility (HP:0012207)
Associated disease: Acephalic spermatozoa syndrome; Male infertility due to acephalic spermatozoa (ORPHA:529970)
Gene: PMFBP1
Phenotype: Abnormality of chromosome segregation (HP:0002916)
Associated disease: Acephalic spermatozoa syndrome; Male infertility due to acephalic spermatozoa (ORPHA:529970)
Gene: RAB33B
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAB33B
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAB33B
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB33B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SMITH-MCCORT DYSPLASIA 2 (OMIM:615222)
Gene: RAB33B
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB33B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB33B
Phenotype: Broad phalanx (HP:0006009)
Associated disease: SMITH-MCCORT DYSPLASIA 2 (OMIM:615222)
Gene: RAB33B
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAB33B
Phenotype: Flattened femoral head (HP:0008812)
Associated disease: SMITH-MCCORT DYSPLASIA 2 (OMIM:615222)
Gene: RAB33B
Phenotype: Limited elbow extension (HP:0001377)
Associated disease: SMITH-MCCORT DYSPLASIA 2 (OMIM:615222)
Gene: RAB33B
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB33B
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAB33B
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB33B
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB33B
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAB33B
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB33B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SMITH-MCCORT DYSPLASIA 2 (OMIM:615222)
Gene: RAB33B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB33B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAB33B
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAB33B
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB33B
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAB33B
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB33B
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB33B
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB33B
Phenotype: Enlarged interphalangeal joints (HP:0006247)
Associated disease: SMITH-MCCORT DYSPLASIA 2 (OMIM:615222)
Gene: RAB33B
Phenotype: Hypoplasia of the odontoid process (HP:0003311)
Associated disease: SMITH-MCCORT DYSPLASIA 2 (OMIM:615222)
Gene: RAB33B
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: SMITH-MCCORT DYSPLASIA 2 (OMIM:615222)
Gene: RAB33B
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAB33B
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB33B
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB33B
Phenotype: Disproportionate short-trunk short stature (HP:0003521)
Associated disease: SMITH-MCCORT DYSPLASIA 2 (OMIM:615222)
Gene: RAB33B
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAB33B
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB33B
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB33B
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: SMITH-MCCORT DYSPLASIA 2 (OMIM:615222)
Gene: RAB33B
Phenotype: Short metatarsal (HP:0010743)
Associated disease: SMITH-MCCORT DYSPLASIA 2 (OMIM:615222)
Gene: RAB33B
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAB33B
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAB33B
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAB33B
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB33B
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAB33B
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAB33B
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB33B
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAB33B
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB33B
Phenotype: Short metacarpal (HP:0010049)
Associated disease: SMITH-MCCORT DYSPLASIA 2 (OMIM:615222)
Gene: RAB33B
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB33B
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAB33B
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB33B
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB33B
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB33B
Phenotype: Decreased body weight (HP:0004325)
Associated disease: SMITH-MCCORT DYSPLASIA 2 (OMIM:615222)
Gene: RAB33B
Phenotype: Short stature (HP:0004322)
Associated disease: SMITH-MCCORT DYSPLASIA 2 (OMIM:615222)
Gene: RAB33B
Phenotype: Flattened epiphysis (HP:0003071)
Associated disease: SMITH-MCCORT DYSPLASIA 2 (OMIM:615222)
Gene: RAB33B
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAB33B
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAB33B
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB33B
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB33B
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB33B
Phenotype: Metaphyseal irregularity (HP:0003025)
Associated disease: SMITH-MCCORT DYSPLASIA 2 (OMIM:615222)
Gene: RAB33B
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB33B
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB33B
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB33B
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: SMITH-MCCORT DYSPLASIA 2 (OMIM:615222)
Gene: RAB33B
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB33B
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB33B
Phenotype: Childhood onset (HP:0011463)
Associated disease: SMITH-MCCORT DYSPLASIA 2 (OMIM:615222)
Gene: RAB33B
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB33B
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB33B
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB33B
Phenotype: Platyspondyly (HP:0000926)
Associated disease: SMITH-MCCORT DYSPLASIA 2 (OMIM:615222)
Gene: RAB33B
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB33B
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: SMITH-MCCORT DYSPLASIA 2 (OMIM:615222)
Gene: RAB33B
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB33B
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAB33B
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAB33B
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB33B
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAB33B
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB33B
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB33B
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB33B
Phenotype: Coarse facial features (HP:0000280)
Associated disease: SMITH-MCCORT DYSPLASIA 2 (OMIM:615222)
Gene: RAB33B
Phenotype: Broad femoral neck (HP:0006429)
Associated disease: SMITH-MCCORT DYSPLASIA 2 (OMIM:615222)
Gene: RAB33B
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB33B
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB33B
Phenotype: Barrel-shaped chest (HP:0001552)
Associated disease: SMITH-MCCORT DYSPLASIA 2 (OMIM:615222)
Gene: RAB33B
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAB33B
Phenotype: Genu valgum (HP:0002857)
Associated disease: SMITH-MCCORT DYSPLASIA 2 (OMIM:615222)
Gene: RAB33B
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAB33B
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB33B
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAB33B
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB33B
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB33B
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAB33B
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB33B
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAB33B
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB33B
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB33B
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAB33B
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: SMITH-MCCORT DYSPLASIA 2 (OMIM:615222)
Gene: RAB33B
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB33B
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB33B
Phenotype: Short neck (HP:0000470)
Associated disease: SMITH-MCCORT DYSPLASIA 2 (OMIM:615222)
Gene: RAB33B
Phenotype: Prominent calcaneus (HP:0012428)
Associated disease: SMITH-MCCORT DYSPLASIA 2 (OMIM:615222)
Gene: RAB33B
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB33B
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB33B
Phenotype: Pes planus (HP:0001763)
Associated disease: SMITH-MCCORT DYSPLASIA 2 (OMIM:615222)
Gene: RAB33B
Phenotype: Broad metatarsal (HP:0001783)
Associated disease: SMITH-MCCORT DYSPLASIA 2 (OMIM:615222)
Gene: RAB33B
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB33B
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: RAB33B
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB33B
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB33B
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: RAB33B
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DOHH
Phenotype: Increased nuchal translucency (HP:0010880)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CEREBRAL ATROPHY, AND VISUAL IMPAIRMENT (OMIM:620066)
Gene: DOHH
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CEREBRAL ATROPHY, AND VISUAL IMPAIRMENT (OMIM:620066)
Gene: DOHH
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CEREBRAL ATROPHY, AND VISUAL IMPAIRMENT (OMIM:620066)
Gene: DOHH
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CEREBRAL ATROPHY, AND VISUAL IMPAIRMENT (OMIM:620066)
Gene: DOHH
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CEREBRAL ATROPHY, AND VISUAL IMPAIRMENT (OMIM:620066)
Gene: DOHH
Phenotype: Inability to walk (HP:0002540)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CEREBRAL ATROPHY, AND VISUAL IMPAIRMENT (OMIM:620066)
Gene: DOHH
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CEREBRAL ATROPHY, AND VISUAL IMPAIRMENT (OMIM:620066)
Gene: DOHH
Phenotype: Absent speech (HP:0001344)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CEREBRAL ATROPHY, AND VISUAL IMPAIRMENT (OMIM:620066)
Gene: DOHH
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CEREBRAL ATROPHY, AND VISUAL IMPAIRMENT (OMIM:620066)
Gene: DOHH
Phenotype: Recurrent infections (HP:0002719)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CEREBRAL ATROPHY, AND VISUAL IMPAIRMENT (OMIM:620066)
Gene: DOHH
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CEREBRAL ATROPHY, AND VISUAL IMPAIRMENT (OMIM:620066)
Gene: DOHH
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CEREBRAL ATROPHY, AND VISUAL IMPAIRMENT (OMIM:620066)
Gene: DOHH
Phenotype: First degree atrioventricular block (HP:0011705)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CEREBRAL ATROPHY, AND VISUAL IMPAIRMENT (OMIM:620066)
Gene: DOHH
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CEREBRAL ATROPHY, AND VISUAL IMPAIRMENT (OMIM:620066)
Gene: DOHH
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CEREBRAL ATROPHY, AND VISUAL IMPAIRMENT (OMIM:620066)
Gene: DOHH
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CEREBRAL ATROPHY, AND VISUAL IMPAIRMENT (OMIM:620066)
Gene: DOHH
Phenotype: Congenital onset (HP:0003577)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CEREBRAL ATROPHY, AND VISUAL IMPAIRMENT (OMIM:620066)
Gene: DOHH
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CEREBRAL ATROPHY, AND VISUAL IMPAIRMENT (OMIM:620066)
Gene: DOHH
Phenotype: Global brain atrophy (HP:0002283)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CEREBRAL ATROPHY, AND VISUAL IMPAIRMENT (OMIM:620066)
Gene: DOHH
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CEREBRAL ATROPHY, AND VISUAL IMPAIRMENT (OMIM:620066)
Gene: DOHH
Phenotype: Atonic seizure (HP:0010819)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CEREBRAL ATROPHY, AND VISUAL IMPAIRMENT (OMIM:620066)
Gene: DOHH
Phenotype: Neonatal onset (HP:0003623)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CEREBRAL ATROPHY, AND VISUAL IMPAIRMENT (OMIM:620066)
Gene: DOHH
Phenotype: Nystagmus (HP:0000639)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CEREBRAL ATROPHY, AND VISUAL IMPAIRMENT (OMIM:620066)
Gene: DOHH
Phenotype: Partial atrioventricular canal defect (HP:0011577)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CEREBRAL ATROPHY, AND VISUAL IMPAIRMENT (OMIM:620066)
Gene: DOHH
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CEREBRAL ATROPHY, AND VISUAL IMPAIRMENT (OMIM:620066)
Gene: DOHH
Phenotype: Tricuspid regurgitation (HP:0005180)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CEREBRAL ATROPHY, AND VISUAL IMPAIRMENT (OMIM:620066)
Gene: DOHH
Phenotype: Shortened PR interval (HP:0005165)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CEREBRAL ATROPHY, AND VISUAL IMPAIRMENT (OMIM:620066)
Gene: DOHH
Phenotype: High myopia (HP:0011003)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CEREBRAL ATROPHY, AND VISUAL IMPAIRMENT (OMIM:620066)
Gene: DOHH
Phenotype: Secundum atrial septal defect (HP:0001684)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CEREBRAL ATROPHY, AND VISUAL IMPAIRMENT (OMIM:620066)
Gene: DOHH
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CEREBRAL ATROPHY, AND VISUAL IMPAIRMENT (OMIM:620066)
Gene: DOHH
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CEREBRAL ATROPHY, AND VISUAL IMPAIRMENT (OMIM:620066)
Gene: DOHH
Phenotype: Aortic regurgitation (HP:0001659)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CEREBRAL ATROPHY, AND VISUAL IMPAIRMENT (OMIM:620066)
Gene: DOHH
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CEREBRAL ATROPHY, AND VISUAL IMPAIRMENT (OMIM:620066)
Gene: DOHH
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CEREBRAL ATROPHY, AND VISUAL IMPAIRMENT (OMIM:620066)
Gene: DOHH
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CEREBRAL ATROPHY, AND VISUAL IMPAIRMENT (OMIM:620066)
Gene: DOHH
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CEREBRAL ATROPHY, AND VISUAL IMPAIRMENT (OMIM:620066)
Gene: DOHH
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CEREBRAL ATROPHY, AND VISUAL IMPAIRMENT (OMIM:620066)
Gene: DOHH
Phenotype: Premature ventricular contraction (HP:0006682)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CEREBRAL ATROPHY, AND VISUAL IMPAIRMENT (OMIM:620066)
Gene: DOHH
Phenotype: Strabismus (HP:0000486)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CEREBRAL ATROPHY, AND VISUAL IMPAIRMENT (OMIM:620066)
Gene: ARHGAP24
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: ARHGAP24
Phenotype: Peritonitis (HP:0002586)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: ARHGAP24
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: ARHGAP24
Phenotype: Proteinuria (HP:0000093)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: ARHGAP24
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)