TaoMedAI/RareMedData huggingface dataset:
Gene: NALCN
Phenotype: Triangular face (HP:0000325)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1 (OMIM:615419)
Gene: NALCN
Phenotype: Macrotia (HP:0000400)
Associated disease: CLIFAHDD syndrome; Congenital limbs-face contractures-hypotonia-developmental delay syndrome (ORPHA:562528)
Gene: NALCN
Phenotype: Macrotia (HP:0000400)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1 (OMIM:615419)
Gene: NALCN
Phenotype: Prominent nasolabial fold (HP:0005272)
Associated disease: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY (OMIM:616266)
Gene: NALCN
Phenotype: Strabismus (HP:0000486)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1 (OMIM:615419)
Gene: NALCN
Phenotype: Strabismus (HP:0000486)
Associated disease: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY (OMIM:616266)
Gene: NALCN
Phenotype: Strabismus (HP:0000486)
Associated disease: Freeman-Burian syndrome; Freeman-Sheldon syndrome; Craniocarpotarsal dystrophy; Craniocarpotarsal dysplasia; Distal arthrogryposis type 2A; Whistling face syndrome (ORPHA:2053)
Gene: NALCN
Phenotype: Strabismus (HP:0000486)
Associated disease: CLIFAHDD syndrome; Congenital limbs-face contractures-hypotonia-developmental delay syndrome (ORPHA:562528)
Gene: NALCN
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY (OMIM:616266)
Gene: NALCN
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Freeman-Burian syndrome; Freeman-Sheldon syndrome; Craniocarpotarsal dystrophy; Craniocarpotarsal dysplasia; Distal arthrogryposis type 2A; Whistling face syndrome (ORPHA:2053)
Gene: NALCN
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: CLIFAHDD syndrome; Congenital limbs-face contractures-hypotonia-developmental delay syndrome (ORPHA:562528)
Gene: NALCN
Phenotype: Deeply set eye (HP:0000490)
Associated disease: Freeman-Burian syndrome; Freeman-Sheldon syndrome; Craniocarpotarsal dystrophy; Craniocarpotarsal dysplasia; Distal arthrogryposis type 2A; Whistling face syndrome (ORPHA:2053)
Gene: NALCN
Phenotype: Anteverted nares (HP:0000463)
Associated disease: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY (OMIM:616266)
Gene: NALCN
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Freeman-Burian syndrome; Freeman-Sheldon syndrome; Craniocarpotarsal dystrophy; Craniocarpotarsal dysplasia; Distal arthrogryposis type 2A; Whistling face syndrome (ORPHA:2053)
Gene: NALCN
Phenotype: Short neck (HP:0000470)
Associated disease: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY (OMIM:616266)
Gene: NALCN
Phenotype: Short neck (HP:0000470)
Associated disease: CLIFAHDD syndrome; Congenital limbs-face contractures-hypotonia-developmental delay syndrome (ORPHA:562528)
Gene: NALCN
Phenotype: Short neck (HP:0000470)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: NALCN
Phenotype: Webbed neck (HP:0000465)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: NALCN
Phenotype: Slender nose (HP:0000417)
Associated disease: CLIFAHDD syndrome; Congenital limbs-face contractures-hypotonia-developmental delay syndrome (ORPHA:562528)
Gene: NALCN
Phenotype: Slender nose (HP:0000417)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1 (OMIM:615419)
Gene: NALCN
Phenotype: Protruding ear (HP:0000411)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: NALCN
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY (OMIM:616266)
Gene: NALCN
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Freeman-Burian syndrome; Freeman-Sheldon syndrome; Craniocarpotarsal dystrophy; Craniocarpotarsal dysplasia; Distal arthrogryposis type 2A; Whistling face syndrome (ORPHA:2053)
Gene: NALCN
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: CLIFAHDD syndrome; Congenital limbs-face contractures-hypotonia-developmental delay syndrome (ORPHA:562528)
Gene: NALCN
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY (OMIM:616266)
Gene: NALCN
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Freeman-Burian syndrome; Freeman-Sheldon syndrome; Craniocarpotarsal dystrophy; Craniocarpotarsal dysplasia; Distal arthrogryposis type 2A; Whistling face syndrome (ORPHA:2053)
Gene: NALCN
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: CLIFAHDD syndrome; Congenital limbs-face contractures-hypotonia-developmental delay syndrome (ORPHA:562528)
Gene: NALCN
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Distal arthrogryposis type 2B; SSH; Freeman-Sheldon syndrome variant; Distal arthrogryposis multiplex congenita type 2B; Sheldon-Hall syndrome; DA2B (ORPHA:1147)
Gene: NALCN
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: Freeman-Burian syndrome; Freeman-Sheldon syndrome; Craniocarpotarsal dystrophy; Craniocarpotarsal dysplasia; Distal arthrogryposis type 2A; Whistling face syndrome (ORPHA:2053)
Gene: NALCN
Phenotype: Calcaneovalgus deformity (HP:0001848)
Associated disease: CLIFAHDD syndrome; Congenital limbs-face contractures-hypotonia-developmental delay syndrome (ORPHA:562528)
Gene: NALCN
Phenotype: Calcaneovalgus deformity (HP:0001848)
Associated disease: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY (OMIM:616266)
Gene: NALCN
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY (OMIM:616266)
Gene: NALCN
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: Distal arthrogryposis type 1; Digitotalar dysmorphism; DA1 (ORPHA:1146)
Gene: NALCN
Phenotype: Ptosis (HP:0000508)
Associated disease: Freeman-Burian syndrome; Freeman-Sheldon syndrome; Craniocarpotarsal dystrophy; Craniocarpotarsal dysplasia; Distal arthrogryposis type 2A; Whistling face syndrome (ORPHA:2053)
Gene: NALCN
Phenotype: Prominent forehead (HP:0011220)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1 (OMIM:615419)
Gene: NALCN
Phenotype: Esotropia (HP:0000565)
Associated disease: CLIFAHDD syndrome; Congenital limbs-face contractures-hypotonia-developmental delay syndrome (ORPHA:562528)
Gene: NALCN
Phenotype: Esotropia (HP:0000565)
Associated disease: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY (OMIM:616266)
Gene: NALCN
Phenotype: Talipes (HP:0001883)
Associated disease: Distal arthrogryposis type 1; Digitotalar dysmorphism; DA1 (ORPHA:1146)
Gene: NALCN
Phenotype: Myopia (HP:0000545)
Associated disease: CLIFAHDD syndrome; Congenital limbs-face contractures-hypotonia-developmental delay syndrome (ORPHA:562528)
Gene: TMIE
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 6 (OMIM:600971)
Gene: TMIE
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 6 (OMIM:600971)
Gene: TMIE
Phenotype: Hearing impairment (HP:0000365)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 6 (OMIM:600971)
Gene: ASPM
Phenotype: Small cerebral cortex (HP:0002472)
Associated disease: MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:608716)
Gene: ASPM
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: ASPM
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:608716)
Gene: ASPM
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:608716)
Gene: ASPM
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: ASPM
Phenotype: Motor delay (HP:0001270)
Associated disease: MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:608716)
Gene: ASPM
Phenotype: Seizure (HP:0001250)
Associated disease: MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:608716)
Gene: ASPM
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:608716)
Gene: ASPM
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: ASPM
Phenotype: Hypoplasia of the frontal lobes (HP:0007333)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: ASPM
Phenotype: Cortical dysplasia (HP:0002539)
Associated disease: MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:608716)
Gene: ASPM
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:608716)
Gene: ASPM
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: ASPM
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: ASPM
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:608716)
Gene: ASPM
Phenotype: Pachygyria (HP:0001302)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: ASPM
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:608716)
Gene: ASPM
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: ASPM
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:608716)
Gene: ASPM
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:608716)
Gene: ASPM
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: ASPM
Phenotype: Opisthotonus (HP:0002179)
Associated disease: MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:608716)
Gene: ASPM
Phenotype: Congenital onset (HP:0003577)
Associated disease: MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:608716)
Gene: ASPM
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:608716)
Gene: ASPM
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: ASPM
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:608716)
Gene: ASPM
Phenotype: Decreased body weight (HP:0004325)
Associated disease: MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:608716)
Gene: ASPM
Phenotype: Short stature (HP:0004322)
Associated disease: MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:608716)
Gene: ASPM
Phenotype: Short stature (HP:0004322)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: ASPM
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:608716)
Gene: ASPM
Phenotype: Hyperactivity (HP:0000752)
Associated disease: MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:608716)
Gene: ASPM
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:608716)
Gene: ASPM
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:608716)
Gene: ASPM
Phenotype: Fetal onset (HP:0011461)
Associated disease: MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:608716)
Gene: ASPM
Phenotype: Abnormal cortical bone morphology (HP:0003103)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: ASPM
Phenotype: Epicanthus (HP:0000286)
Associated disease: MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:608716)
Gene: ASPM
Phenotype: Microcephaly (HP:0000252)
Associated disease: MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:608716)
Gene: ASPM
Phenotype: Microcephaly (HP:0000252)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: ASPM
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: ASPM
Phenotype: High palate (HP:0000218)
Associated disease: MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:608716)
Gene: ASPM
Phenotype: Growth delay (HP:0001510)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: ASPM
Phenotype: Hearing impairment (HP:0000365)
Associated disease: MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:608716)
Gene: ASPM
Phenotype: Narrow forehead (HP:0000341)
Associated disease: MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:608716)
Gene: ASPM
Phenotype: Sloping forehead (HP:0000340)
Associated disease: MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:608716)
Gene: ASPM
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: ASPM
Phenotype: Micrognathia (HP:0000347)
Associated disease: MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:608716)
Gene: ASPM
Phenotype: Flat occiput (HP:0005469)
Associated disease: MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:608716)
Gene: ASPM
Phenotype: Proptosis (HP:0000520)
Associated disease: MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:608716)
Gene: ASPM
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: MICROCEPHALY 5, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:608716)
Gene: ASPM
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: NPHP4
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NPHP4
Phenotype: Severely reduced visual acuity (HP:0001141)
Associated disease: SENIOR-LOKEN SYNDROME 4 (OMIM:606996)
Gene: NPHP4
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: SENIOR-LOKEN SYNDROME 4 (OMIM:606996)
Gene: NPHP4
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: NEPHRONOPHTHISIS 4 (OMIM:606966)
Gene: NPHP4
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: NPHP4
Phenotype: Ataxia (HP:0001251)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: NPHP4
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: NPHP4
Phenotype: Nephronophthisis (HP:0000090)
Associated disease: SENIOR-LOKEN SYNDROME 4 (OMIM:606996)
Gene: NPHP4
Phenotype: Nephronophthisis (HP:0000090)
Associated disease: NEPHRONOPHTHISIS 4 (OMIM:606966)
Gene: NPHP4
Phenotype: Nephronophthisis (HP:0000090)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: NPHP4
Phenotype: Renal tubular atrophy (HP:0000092)
Associated disease: NEPHRONOPHTHISIS 4 (OMIM:606966)
Gene: NPHP4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SENIOR-LOKEN SYNDROME 4 (OMIM:606996)
Gene: NPHP4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEPHRONOPHTHISIS 4 (OMIM:606966)
Gene: NPHP4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NPHP4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NPHP4
Phenotype: Congenital hepatic fibrosis (HP:0002612)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: NPHP4
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NPHP4
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NPHP4
Phenotype: Renal corticomedullary cysts (HP:0000108)
Associated disease: NEPHRONOPHTHISIS 4 (OMIM:606966)
Gene: NPHP4
Phenotype: Polyuria (HP:0000103)
Associated disease: SENIOR-LOKEN SYNDROME 4 (OMIM:606996)
Gene: NPHP4
Phenotype: Polyuria (HP:0000103)
Associated disease: NEPHRONOPHTHISIS 4 (OMIM:606966)
Gene: NPHP4
Phenotype: Premature ovarian insufficiency (HP:0008209)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: NPHP4
Phenotype: Cone-shaped epiphysis (HP:0010579)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: NPHP4
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NPHP4
Phenotype: Tubulointerstitial fibrosis (HP:0005576)
Associated disease: NEPHRONOPHTHISIS 4 (OMIM:606966)
Gene: NPHP4
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: NPHP4
Phenotype: Amblyopia (HP:0000646)
Associated disease: SENIOR-LOKEN SYNDROME 4 (OMIM:606996)
Gene: NPHP4
Phenotype: Polydipsia (HP:0001959)
Associated disease: SENIOR-LOKEN SYNDROME 4 (OMIM:606996)
Gene: NPHP4
Phenotype: Polydipsia (HP:0001959)
Associated disease: NEPHRONOPHTHISIS 4 (OMIM:606966)
Gene: NPHP4
Phenotype: Anemia (HP:0001903)
Associated disease: SENIOR-LOKEN SYNDROME 4 (OMIM:606996)
Gene: NPHP4
Phenotype: Anemia (HP:0001903)
Associated disease: NEPHRONOPHTHISIS 4 (OMIM:606966)
Gene: NPHP4
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NPHP4
Phenotype: Short stature (HP:0004322)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: NPHP4
Phenotype: Abnormality of bone mineral density (HP:0004348)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: NPHP4
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NPHP4
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NPHP4
Phenotype: Hypertension (HP:0000822)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: NPHP4
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: NPHP4
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NPHP4
Phenotype: Rotary nystagmus (HP:0001583)
Associated disease: SENIOR-LOKEN SYNDROME 4 (OMIM:606996)
Gene: NPHP4
Phenotype: Growth delay (HP:0001510)
Associated disease: NEPHRONOPHTHISIS 4 (OMIM:606966)
Gene: NPHP4
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NPHP4
Phenotype: Cataract (HP:0000518)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: NPHP4
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: SENIOR-LOKEN SYNDROME 4 (OMIM:606996)
Gene: NPHP4
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NPHP4
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: NPHP4
Phenotype: Visual impairment (HP:0000505)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: NPHP4
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NPHP4
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: NPHP4
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: NPHP4
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RNU12
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 33 (OMIM:620208)
Gene: RNU12
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Congenital cerebellar ataxia due to RNU12 mutation (ORPHA:512260)
Gene: RNU12
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: Congenital cerebellar ataxia due to RNU12 mutation (ORPHA:512260)
Gene: RNU12
Phenotype: Head titubation (HP:0002599)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 33 (OMIM:620208)
Gene: RNU12
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Congenital cerebellar ataxia due to RNU12 mutation (ORPHA:512260)
Gene: RNU12
Phenotype: Hypotonia (HP:0001252)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 33 (OMIM:620208)
Gene: RNU12
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CAP syndrome; CDAGS syndrome; Craniosynostosis-anal anomalies-porokeratosis syndrome (ORPHA:85199)
Gene: RNU12
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 33 (OMIM:620208)
Gene: RNU12
Phenotype: Dysarthria (HP:0001260)
Associated disease: Congenital cerebellar ataxia due to RNU12 mutation (ORPHA:512260)
Gene: RNU12
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CDAGS SYNDROME (OMIM:603116)
Gene: RNU12
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CAP syndrome; CDAGS syndrome; Craniosynostosis-anal anomalies-porokeratosis syndrome (ORPHA:85199)