TaoMedAI/RareMedData huggingface dataset:
Gene: DRAM2
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DRAM2
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: DRAM2
Phenotype: Macular atrophy (HP:0007401)
Associated disease: CONE-ROD DYSTROPHY 21 (OMIM:616502)
Gene: DRAM2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONE-ROD DYSTROPHY 21 (OMIM:616502)
Gene: DRAM2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DRAM2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DRAM2
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DRAM2
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DRAM2
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: CONE-ROD DYSTROPHY 21 (OMIM:616502)
Gene: DRAM2
Phenotype: Dyschromatopsia (HP:0007641)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: DRAM2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DRAM2
Phenotype: Nystagmus (HP:0000639)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: DRAM2
Phenotype: Photophobia (HP:0000613)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: DRAM2
Phenotype: Photophobia (HP:0000613)
Associated disease: CONE-ROD DYSTROPHY 21 (OMIM:616502)
Gene: DRAM2
Phenotype: Central scotoma (HP:0000603)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: DRAM2
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: DRAM2
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: DRAM2
Phenotype: Nyctalopia (HP:0000662)
Associated disease: CONE-ROD DYSTROPHY 21 (OMIM:616502)
Gene: DRAM2
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DRAM2
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DRAM2
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DRAM2
Phenotype: Young adult onset (HP:0011462)
Associated disease: CONE-ROD DYSTROPHY 21 (OMIM:616502)
Gene: DRAM2
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: DRAM2
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DRAM2
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: DRAM2
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: DRAM2
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DRAM2
Phenotype: Metamorphopsia (HP:0012508)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: DRAM2
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DRAM2
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: DRAM2
Phenotype: Visual impairment (HP:0000505)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: DRAM2
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DRAM2
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: CONE-ROD DYSTROPHY 21 (OMIM:616502)
Gene: DRAM2
Phenotype: Color vision defect (HP:0000551)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: DRAM2
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: DRAM2
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DRAM2
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: FITM2
Phenotype: Limb dystonia (HP:0002451)
Associated disease: SIDDIQI SYNDROME (OMIM:618635)
Gene: FITM2
Phenotype: Lower limb amyotrophy (HP:0007210)
Associated disease: SIDDIQI SYNDROME (OMIM:618635)
Gene: FITM2
Phenotype: Motor delay (HP:0001270)
Associated disease: SIDDIQI SYNDROME (OMIM:618635)
Gene: FITM2
Phenotype: Seizure (HP:0001250)
Associated disease: SIDDIQI SYNDROME (OMIM:618635)
Gene: FITM2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SIDDIQI SYNDROME (OMIM:618635)
Gene: FITM2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: SIDDIQI SYNDROME (OMIM:618635)
Gene: FITM2
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: SIDDIQI SYNDROME (OMIM:618635)
Gene: FITM2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SIDDIQI SYNDROME (OMIM:618635)
Gene: FITM2
Phenotype: Developmental regression (HP:0002376)
Associated disease: SIDDIQI SYNDROME (OMIM:618635)
Gene: FITM2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: SIDDIQI SYNDROME (OMIM:618635)
Gene: FITM2
Phenotype: Ichthyosis (HP:0008064)
Associated disease: SIDDIQI SYNDROME (OMIM:618635)
Gene: FITM2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: SIDDIQI SYNDROME (OMIM:618635)
Gene: FITM2
Phenotype: Pes cavus (HP:0001761)
Associated disease: SIDDIQI SYNDROME (OMIM:618635)
Gene: TBC1D20
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: WARBURG MICRO SYNDROME 4 (OMIM:615663)
Gene: TBC1D20
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: TBC1D20
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: WARBURG MICRO SYNDROME 4 (OMIM:615663)
Gene: TBC1D20
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: WARBURG MICRO SYNDROME 4 (OMIM:615663)
Gene: TBC1D20
Phenotype: Seizure (HP:0001250)
Associated disease: WARBURG MICRO SYNDROME 4 (OMIM:615663)
Gene: TBC1D20
Phenotype: Seizure (HP:0001250)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: TBC1D20
Phenotype: Hypotonia (HP:0001252)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: TBC1D20
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: TBC1D20
Phenotype: Spasticity (HP:0001257)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: TBC1D20
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: WARBURG MICRO SYNDROME 4 (OMIM:615663)
Gene: TBC1D20
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: TBC1D20
Phenotype: Aplasia/Hypoplasia of the corpus callosum (HP:0007370)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: TBC1D20
Phenotype: Inability to walk (HP:0002540)
Associated disease: WARBURG MICRO SYNDROME 4 (OMIM:615663)
Gene: TBC1D20
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: WARBURG MICRO SYNDROME 4 (OMIM:615663)
Gene: TBC1D20
Phenotype: Hypoplastic labia minora (HP:0000064)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: TBC1D20
Phenotype: Clitoral hypoplasia (HP:0000060)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: TBC1D20
Phenotype: Small scrotum (HP:0000046)
Associated disease: WARBURG MICRO SYNDROME 4 (OMIM:615663)
Gene: TBC1D20
Phenotype: Flexion contracture (HP:0001371)
Associated disease: WARBURG MICRO SYNDROME 4 (OMIM:615663)
Gene: TBC1D20
Phenotype: Micropenis (HP:0000054)
Associated disease: WARBURG MICRO SYNDROME 4 (OMIM:615663)
Gene: TBC1D20
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: TBC1D20
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: WARBURG MICRO SYNDROME 4 (OMIM:615663)
Gene: TBC1D20
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: TBC1D20
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: WARBURG MICRO SYNDROME 4 (OMIM:615663)
Gene: TBC1D20
Phenotype: Severe postnatal growth retardation (HP:0008850)
Associated disease: WARBURG MICRO SYNDROME 4 (OMIM:615663)
Gene: TBC1D20
Phenotype: Absent speech (HP:0001344)
Associated disease: WARBURG MICRO SYNDROME 4 (OMIM:615663)
Gene: TBC1D20
Phenotype: Lissencephaly (HP:0001339)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: TBC1D20
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: WARBURG MICRO SYNDROME 4 (OMIM:615663)
Gene: TBC1D20
Phenotype: Pachygyria (HP:0001302)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: TBC1D20
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: TBC1D20
Phenotype: Scoliosis (HP:0002650)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: TBC1D20
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: TBC1D20
Phenotype: Narrow mouth (HP:0000160)
Associated disease: WARBURG MICRO SYNDROME 4 (OMIM:615663)
Gene: TBC1D20
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: TBC1D20
Phenotype: Abnormal localization of kidney (HP:0100542)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: TBC1D20
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: WARBURG MICRO SYNDROME 4 (OMIM:615663)
Gene: TBC1D20
Phenotype: Babinski sign (HP:0003487)
Associated disease: WARBURG MICRO SYNDROME 4 (OMIM:615663)
Gene: TBC1D20
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: WARBURG MICRO SYNDROME 4 (OMIM:615663)
Gene: TBC1D20
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: TBC1D20
Phenotype: Status epilepticus (HP:0002133)
Associated disease: WARBURG MICRO SYNDROME 4 (OMIM:615663)
Gene: TBC1D20
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: WARBURG MICRO SYNDROME 4 (OMIM:615663)
Gene: TBC1D20
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: WARBURG MICRO SYNDROME 4 (OMIM:615663)
Gene: TBC1D20
Phenotype: Congenital onset (HP:0003577)
Associated disease: WARBURG MICRO SYNDROME 4 (OMIM:615663)
Gene: TBC1D20
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: TBC1D20
Phenotype: Generalized hirsutism (HP:0002230)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: TBC1D20
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: WARBURG MICRO SYNDROME 4 (OMIM:615663)
Gene: TBC1D20
Phenotype: Hirsutism (HP:0001007)
Associated disease: WARBURG MICRO SYNDROME 4 (OMIM:615663)
Gene: TBC1D20
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: TBC1D20
Phenotype: Abnormality of visual evoked potentials (HP:0000649)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: TBC1D20
Phenotype: Optic atrophy (HP:0000648)
Associated disease: WARBURG MICRO SYNDROME 4 (OMIM:615663)
Gene: TBC1D20
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: TBC1D20
Phenotype: Perisylvian polymicrogyria (HP:0012650)
Associated disease: WARBURG MICRO SYNDROME 4 (OMIM:615663)
Gene: TBC1D20
Phenotype: Short stature (HP:0004322)
Associated disease: WARBURG MICRO SYNDROME 4 (OMIM:615663)
Gene: TBC1D20
Phenotype: Short stature (HP:0004322)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: TBC1D20
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: WARBURG MICRO SYNDROME 4 (OMIM:615663)
Gene: TBC1D20
Phenotype: Decreased muscle mass (HP:0003199)
Associated disease: WARBURG MICRO SYNDROME 4 (OMIM:615663)
Gene: TBC1D20
Phenotype: Short nose (HP:0003196)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: TBC1D20
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: TBC1D20
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: TBC1D20
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: WARBURG MICRO SYNDROME 4 (OMIM:615663)
Gene: TBC1D20
Phenotype: Kyphosis (HP:0002808)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: TBC1D20
Phenotype: Microcephaly (HP:0000252)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: TBC1D20
Phenotype: Brachycephaly (HP:0000248)
Associated disease: WARBURG MICRO SYNDROME 4 (OMIM:615663)
Gene: TBC1D20
Phenotype: High palate (HP:0000218)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: TBC1D20
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: TBC1D20
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: TBC1D20
Phenotype: Long philtrum (HP:0000343)
Associated disease: WARBURG MICRO SYNDROME 4 (OMIM:615663)
Gene: TBC1D20
Phenotype: Micrognathia (HP:0000347)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: TBC1D20
Phenotype: Short philtrum (HP:0000322)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: TBC1D20
Phenotype: Macrotia (HP:0000400)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: TBC1D20
Phenotype: Retinal coloboma (HP:0000480)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: TBC1D20
Phenotype: Microcornea (HP:0000482)
Associated disease: WARBURG MICRO SYNDROME 4 (OMIM:615663)
Gene: TBC1D20
Phenotype: Microcornea (HP:0000482)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: TBC1D20
Phenotype: Deeply set eye (HP:0000490)
Associated disease: WARBURG MICRO SYNDROME 4 (OMIM:615663)
Gene: TBC1D20
Phenotype: Anteverted nares (HP:0000463)
Associated disease: WARBURG MICRO SYNDROME 4 (OMIM:615663)
Gene: TBC1D20
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: TBC1D20
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: TBC1D20
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: WARBURG MICRO SYNDROME 4 (OMIM:615663)
Gene: TBC1D20
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: WARBURG MICRO SYNDROME 4 (OMIM:615663)
Gene: TBC1D20
Phenotype: Cataract (HP:0000518)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: TBC1D20
Phenotype: Developmental cataract (HP:0000519)
Associated disease: WARBURG MICRO SYNDROME 4 (OMIM:615663)
Gene: TBC1D20
Phenotype: Ptosis (HP:0000508)
Associated disease: WARBURG MICRO SYNDROME 4 (OMIM:615663)
Gene: TBC1D20
Phenotype: Visual impairment (HP:0000505)
Associated disease: WARBURG MICRO SYNDROME 4 (OMIM:615663)
Gene: TBC1D20
Phenotype: Glaucoma (HP:0000501)
Associated disease: WARBURG MICRO SYNDROME 4 (OMIM:615663)
Gene: TBC1D20
Phenotype: Microphthalmia (HP:0000568)
Associated disease: WARBURG MICRO SYNDROME 4 (OMIM:615663)
Gene: TBC1D20
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Warburg micro syndrome; WARBM; Micro syndrome (ORPHA:2510)
Gene: PROKR2
Phenotype: Eunuchoid habitus (HP:0003782)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: PROKR2
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PROKR2
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PROKR2
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: PROKR2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: PROKR2
Phenotype: Seizure (HP:0001250)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: PROKR2
Phenotype: Seizure (HP:0001250)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: PROKR2
Phenotype: Seizure (HP:0001250)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA (OMIM:244200)
Gene: PROKR2
Phenotype: Seizure (HP:0001250)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: PROKR2
Phenotype: Hypotonia (HP:0001252)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: PROKR2
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PROKR2
Phenotype: Ataxia (HP:0001251)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: PROKR2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: PROKR2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: PROKR2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PROKR2
Phenotype: Dysarthria (HP:0001260)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: PROKR2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: PROKR2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: PROKR2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PROKR2
Phenotype: Tracheoesophageal fistula (HP:0002575)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: PROKR2
Phenotype: Septo-optic dysplasia (HP:0100842)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: PROKR2
Phenotype: Septo-optic dysplasia (HP:0100842)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: PROKR2
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: PROKR2
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: PROKR2
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: PROKR2
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: PROKR2
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: PROKR2
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: PROKR2
Phenotype: Hypoplasia of the ovary (HP:0008724)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: PROKR2
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: PROKR2
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PROKR2
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA (OMIM:244200)
Gene: PROKR2
Phenotype: Finger joint hypermobility (HP:0006094)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA (OMIM:244200)
Gene: PROKR2
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: PROKR2
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA (OMIM:244200)
Gene: PROKR2
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: PROKR2
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: PROKR2
Phenotype: Micropenis (HP:0000054)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA (OMIM:244200)
Gene: PROKR2
Phenotype: Micropenis (HP:0000054)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: PROKR2
Phenotype: Micropenis (HP:0000054)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: PROKR2
Phenotype: Micropenis (HP:0000054)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: PROKR2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PROKR2
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PROKR2
Phenotype: Male hypogonadism (HP:0000026)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: PROKR2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Septo-optic dysplasia; Septo-optic dysplasia spectrum; De Morsier syndrome; SOD (ORPHA:3157)
Gene: PROKR2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 3 WITH OR WITHOUT ANOSMIA (OMIM:244200)
Gene: PROKR2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: PROKR2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: PROKR2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)