TaoMedAI/RareMedData huggingface dataset:
Gene: CRPPA
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 (OMIM:614643)
Gene: CRPPA
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: CRPPA
Phenotype: Metatarsus valgus (HP:0010508)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: CRPPA
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: CRPPA
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: CRPPA
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: CMD-no MR; Congenital muscular dystrophy without intellectual disability; CMD without intellectual disability; Congenital muscular dystrophy-dystroglycanopathy without intellectual disability (ORPHA:370980)
Gene: CRPPA
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 (OMIM:614643)
Gene: CRPPA
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 (OMIM:614643)
Gene: CRPPA
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: CMD-no MR; Congenital muscular dystrophy without intellectual disability; CMD without intellectual disability; Congenital muscular dystrophy-dystroglycanopathy without intellectual disability (ORPHA:370980)
Gene: CRPPA
Phenotype: Exercise-induced myoglobinuria (HP:0008305)
Associated disease: Autosomal recessive limb-girdle muscular dystrophy type 2U; LGMD type 2U; ISPD-related limb-girdle muscular dystrophy R20; LGMD2U; Limb-girdle muscular dystrophy type 2U; ISPD-related LGMD R20 (ORPHA:352479)
Gene: CRPPA
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 (OMIM:614643)
Gene: CRPPA
Phenotype: Scapular winging (HP:0003691)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7 (OMIM:616052)
Gene: CRPPA
Phenotype: Scapular winging (HP:0003691)
Associated disease: Autosomal recessive limb-girdle muscular dystrophy type 2U; LGMD type 2U; ISPD-related limb-girdle muscular dystrophy R20; LGMD2U; Limb-girdle muscular dystrophy type 2U; ISPD-related LGMD R20 (ORPHA:352479)
Gene: CRPPA
Phenotype: Frequent falls (HP:0002359)
Associated disease: CMD-no MR; Congenital muscular dystrophy without intellectual disability; CMD without intellectual disability; Congenital muscular dystrophy-dystroglycanopathy without intellectual disability (ORPHA:370980)
Gene: CRPPA
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: CRPPA
Phenotype: Cerebellar cyst (HP:0002350)
Associated disease: CMD-no MR; Congenital muscular dystrophy without intellectual disability; CMD without intellectual disability; Congenital muscular dystrophy-dystroglycanopathy without intellectual disability (ORPHA:370980)
Gene: CRPPA
Phenotype: Slowly progressive (HP:0003677)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7 (OMIM:616052)
Gene: CRPPA
Phenotype: Abnormal cerebellar vermis morphology (HP:0002334)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: CRPPA
Phenotype: Proximal amyotrophy (HP:0007126)
Associated disease: CMD-no MR; Congenital muscular dystrophy without intellectual disability; CMD without intellectual disability; Congenital muscular dystrophy-dystroglycanopathy without intellectual disability (ORPHA:370980)
Gene: CRPPA
Phenotype: Agyria (HP:0031882)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 (OMIM:614643)
Gene: CRPPA
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: CRPPA
Phenotype: Optic atrophy (HP:0000648)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: CRPPA
Phenotype: Iris coloboma (HP:0000612)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: CRPPA
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 (OMIM:614643)
Gene: CRPPA
Phenotype: Peters anomaly (HP:0000659)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 (OMIM:614643)
Gene: CRPPA
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: CRPPA
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: CRPPA
Phenotype: Childhood onset (HP:0011463)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7 (OMIM:616052)
Gene: CRPPA
Phenotype: Abnormality of mental function (HP:0011446)
Associated disease: Autosomal recessive limb-girdle muscular dystrophy type 2U; LGMD type 2U; ISPD-related limb-girdle muscular dystrophy R20; LGMD2U; Limb-girdle muscular dystrophy type 2U; ISPD-related LGMD R20 (ORPHA:352479)
Gene: CRPPA
Phenotype: Myopathy (HP:0003198)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: CRPPA
Phenotype: Abnormal circulating creatine kinase concentration (HP:0040081)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: CRPPA
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: CRPPA
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7 (OMIM:616052)
Gene: CRPPA
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 (OMIM:614643)
Gene: CRPPA
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: CRPPA
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Autosomal recessive limb-girdle muscular dystrophy type 2U; LGMD type 2U; ISPD-related limb-girdle muscular dystrophy R20; LGMD2U; Limb-girdle muscular dystrophy type 2U; ISPD-related LGMD R20 (ORPHA:352479)
Gene: CRPPA
Phenotype: Abnormal circulating lactate dehydrogenase concentration (HP:0045040)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: CRPPA
Phenotype: Retrognathia (HP:0000278)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 (OMIM:614643)
Gene: CRPPA
Phenotype: Macrocephaly (HP:0000256)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: CRPPA
Phenotype: Macrocephaly (HP:0000256)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 (OMIM:614643)
Gene: CRPPA
Phenotype: Chorioretinal dysplasia (HP:0007731)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: CRPPA
Phenotype: Reduced muscle fiber alpha dystroglycan (HP:0030099)
Associated disease: CMD-no MR; Congenital muscular dystrophy without intellectual disability; CMD without intellectual disability; Congenital muscular dystrophy-dystroglycanopathy without intellectual disability (ORPHA:370980)
Gene: CRPPA
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: CRPPA
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: CRPPA
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 (OMIM:614643)
Gene: CRPPA
Phenotype: Microcephaly (HP:0000252)
Associated disease: CMD-no MR; Congenital muscular dystrophy without intellectual disability; CMD without intellectual disability; Congenital muscular dystrophy-dystroglycanopathy without intellectual disability (ORPHA:370980)
Gene: CRPPA
Phenotype: Microcephaly (HP:0000252)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: CRPPA
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 (OMIM:614643)
Gene: CRPPA
Phenotype: Death in infancy (HP:0001522)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 (OMIM:614643)
Gene: CRPPA
Phenotype: Hypoglycosylation of alpha-dystroglycan (HP:0030046)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7 (OMIM:616052)
Gene: CRPPA
Phenotype: Hypoglycosylation of alpha-dystroglycan (HP:0030046)
Associated disease: Autosomal recessive limb-girdle muscular dystrophy type 2U; LGMD type 2U; ISPD-related limb-girdle muscular dystrophy R20; LGMD2U; Limb-girdle muscular dystrophy type 2U; ISPD-related LGMD R20 (ORPHA:352479)
Gene: CRPPA
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: CMD-no MR; Congenital muscular dystrophy without intellectual disability; CMD without intellectual disability; Congenital muscular dystrophy-dystroglycanopathy without intellectual disability (ORPHA:370980)
Gene: CRPPA
Phenotype: Abnormality of the voice (HP:0001608)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: CRPPA
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: CRPPA
Phenotype: Low-set ears (HP:0000369)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: CRPPA
Phenotype: Low-set ears (HP:0000369)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 (OMIM:614643)
Gene: CRPPA
Phenotype: Abnormality of the cardiovascular system (HP:0001626)
Associated disease: Autosomal recessive limb-girdle muscular dystrophy type 2U; LGMD type 2U; ISPD-related limb-girdle muscular dystrophy R20; LGMD2U; Limb-girdle muscular dystrophy type 2U; ISPD-related LGMD R20 (ORPHA:352479)
Gene: CRPPA
Phenotype: Corneal opacity (HP:0007957)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: CRPPA
Phenotype: Remnants of the hyaloid vascular system (HP:0007968)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 (OMIM:614643)
Gene: CRPPA
Phenotype: Retinal dysplasia (HP:0007973)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 (OMIM:614643)
Gene: CRPPA
Phenotype: Retinal dysplasia (HP:0007973)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: CRPPA
Phenotype: Strabismus (HP:0000486)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: CRPPA
Phenotype: Microcornea (HP:0000482)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: CRPPA
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Autosomal recessive limb-girdle muscular dystrophy type 2U; LGMD type 2U; ISPD-related limb-girdle muscular dystrophy R20; LGMD2U; Limb-girdle muscular dystrophy type 2U; ISPD-related LGMD R20 (ORPHA:352479)
Gene: CRPPA
Phenotype: Deeply set eye (HP:0000490)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 (OMIM:614643)
Gene: CRPPA
Phenotype: Highly elevated creatine kinase (HP:0030234)
Associated disease: Autosomal recessive limb-girdle muscular dystrophy type 2U; LGMD type 2U; ISPD-related limb-girdle muscular dystrophy R20; LGMD2U; Limb-girdle muscular dystrophy type 2U; ISPD-related LGMD R20 (ORPHA:352479)
Gene: CRPPA
Phenotype: Achilles tendon contracture (HP:0001771)
Associated disease: CMD-no MR; Congenital muscular dystrophy without intellectual disability; CMD without intellectual disability; Congenital muscular dystrophy-dystroglycanopathy without intellectual disability (ORPHA:370980)
Gene: CRPPA
Phenotype: Abnormal circulating aldolase concentration (HP:0012400)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: CRPPA
Phenotype: Protruding ear (HP:0000411)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: CRPPA
Phenotype: Limb-girdle muscular dystrophy (HP:0006785)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 7 (OMIM:616052)
Gene: CRPPA
Phenotype: Cataract (HP:0000518)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: CRPPA
Phenotype: Cataract (HP:0000518)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: CRPPA
Phenotype: Cataract (HP:0000518)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 (OMIM:614643)
Gene: CRPPA
Phenotype: Anophthalmia (HP:0000528)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: CRPPA
Phenotype: Visual impairment (HP:0000505)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: CRPPA
Phenotype: Glaucoma (HP:0000501)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: CRPPA
Phenotype: Glaucoma (HP:0000501)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 (OMIM:614643)
Gene: CRPPA
Phenotype: Glaucoma (HP:0000501)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: CRPPA
Phenotype: Abnormal optic nerve morphology (HP:0000587)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: CRPPA
Phenotype: Fatty replacement of skeletal muscle (HP:0012548)
Associated disease: CMD-no MR; Congenital muscular dystrophy without intellectual disability; CMD without intellectual disability; Congenital muscular dystrophy-dystroglycanopathy without intellectual disability (ORPHA:370980)
Gene: CRPPA
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: CRPPA
Phenotype: Microphthalmia (HP:0000568)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 (OMIM:614643)
Gene: CRPPA
Phenotype: Microphthalmia (HP:0000568)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: CRPPA
Phenotype: Retinal detachment (HP:0000541)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: CRPPA
Phenotype: Retinal detachment (HP:0000541)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 7 (OMIM:614643)
Gene: CRPPA
Phenotype: Myopia (HP:0000545)
Associated disease: Muscle-eye-brain syndrome; Santavuori congenital muscular dystrophy; Muscle-eye-brain disease; MEB syndrome (ORPHA:588)
Gene: PRCD
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRCD
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRCD
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRCD
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 36 (OMIM:610599)
Gene: PRCD
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRCD
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRCD
Phenotype: Progressive night blindness (HP:0007675)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRCD
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRCD
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRCD
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRCD
Phenotype: Nystagmus (HP:0000639)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRCD
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRCD
Phenotype: Blindness (HP:0000618)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRCD
Phenotype: Photophobia (HP:0000613)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRCD
Phenotype: Macular degeneration (HP:0000608)
Associated disease: RETINITIS PIGMENTOSA 36 (OMIM:610599)
Gene: PRCD
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRCD
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRCD
Phenotype: Abnormal central response of multifocal electroretinogram (HP:0030488)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRCD
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRCD
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRCD
Phenotype: Photoreceptor outer segment loss on macular OCT (HP:0030610)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRCD
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRCD
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRCD
Phenotype: Photopsia (HP:0030786)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRCD
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRCD
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRCD
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRCD
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRCD
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRCD
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRCD
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRCD
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 36 (OMIM:610599)
Gene: PRCD
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRCD
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 36 (OMIM:610599)
Gene: PRCD
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRCD
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRCD
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRCD
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRCD
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRCD
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 36 (OMIM:610599)
Gene: PRCD
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRCD
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRCD
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRCD
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRCD
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRCD
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRCD
Phenotype: Undetectable electroretinogram (HP:0000550)
Associated disease: RETINITIS PIGMENTOSA 36 (OMIM:610599)
Gene: PRCD
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRCD
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRCD
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: PRCD
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 36 (OMIM:610599)
Gene: PRCD
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRCD
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: UQCC3
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9 (OMIM:616111)
Gene: UQCC3
Phenotype: Hypotonia (HP:0001252)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9 (OMIM:616111)
Gene: UQCC3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9 (OMIM:616111)
Gene: UQCC3
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9 (OMIM:616111)
Gene: UQCC3
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 9 (OMIM:616111)