TaoMedAI/RareMedData huggingface dataset:
Gene: POLR3B
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3B
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3B
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3B
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I (OMIM:619742)
Gene: POLR3B
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3B
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3B
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3B
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3B
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:614381)
Gene: POLR3B
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I (OMIM:619742)
Gene: POLR3B
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3B
Phenotype: Childhood onset (HP:0011463)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:614381)
Gene: POLR3B
Phenotype: Childhood onset (HP:0011463)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3B
Phenotype: Childhood onset (HP:0011463)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I (OMIM:619742)
Gene: POLR3B
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3B
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3B
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3B
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3B
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3B
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR3B
Phenotype: Hypergonadotropic hypogonadism (HP:0000815)
Associated disease: Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome; 4H syndrome (ORPHA:88637)
Gene: POLR3B
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR3B
Phenotype: Delayed puberty (HP:0000823)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3B
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3B
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR3B
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3B
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3B
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3B
Phenotype: Hip dislocation (HP:0002827)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:614381)
Gene: POLR3B
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3B
Phenotype: Microcephaly (HP:0000252)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I (OMIM:619742)
Gene: POLR3B
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3B
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR3B
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR3B
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3B
Phenotype: Growth delay (HP:0001510)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:614381)
Gene: POLR3B
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR3B
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3B
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3B
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR3B
Phenotype: High myopia (HP:0011003)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:614381)
Gene: POLR3B
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3B
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR3B
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3B
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3B
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR3B
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3B
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3B
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3B
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3B
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3B
Phenotype: Vertical supranuclear gaze palsy (HP:0000511)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: POLR3B
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR3B
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3B
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3B
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: POLR3B
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: POLR3B
Phenotype: Myopia (HP:0000545)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:614381)
Gene: POLR3B
Phenotype: Myopia (HP:0000545)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 7, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM (OMIM:607694)
Gene: CCDC88A
Phenotype: Tapered finger (HP:0001182)
Associated disease: PEHO-LIKE SYNDROME (OMIM:617507)
Gene: CCDC88A
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: PEHO-LIKE SYNDROME (OMIM:617507)
Gene: CCDC88A
Phenotype: Hypotonia (HP:0001252)
Associated disease: PEHO-LIKE SYNDROME (OMIM:617507)
Gene: CCDC88A
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: PEHO-LIKE SYNDROME (OMIM:617507)
Gene: CCDC88A
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: PEHO-LIKE SYNDROME (OMIM:617507)
Gene: CCDC88A
Phenotype: Absent speech (HP:0001344)
Associated disease: PEHO-LIKE SYNDROME (OMIM:617507)
Gene: CCDC88A
Phenotype: Lissencephaly (HP:0001339)
Associated disease: PEHO-LIKE SYNDROME (OMIM:617507)
Gene: CCDC88A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PEHO-LIKE SYNDROME (OMIM:617507)
Gene: CCDC88A
Phenotype: Myoclonus (HP:0001336)
Associated disease: PEHO-LIKE SYNDROME (OMIM:617507)
Gene: CCDC88A
Phenotype: Pachygyria (HP:0001302)
Associated disease: PEHO-LIKE SYNDROME (OMIM:617507)
Gene: CCDC88A
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: PEHO-LIKE SYNDROME (OMIM:617507)
Gene: CCDC88A
Phenotype: Open mouth (HP:0000194)
Associated disease: PEHO-LIKE SYNDROME (OMIM:617507)
Gene: CCDC88A
Phenotype: Visual fixation instability (HP:0025405)
Associated disease: PEHO-LIKE SYNDROME (OMIM:617507)
Gene: CCDC88A
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: PEHO-LIKE SYNDROME (OMIM:617507)
Gene: CCDC88A
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: PEHO-LIKE SYNDROME (OMIM:617507)
Gene: CCDC88A
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: PEHO-LIKE SYNDROME (OMIM:617507)
Gene: CCDC88A
Phenotype: Status epilepticus (HP:0002133)
Associated disease: PEHO-LIKE SYNDROME (OMIM:617507)
Gene: CCDC88A
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: PEHO-LIKE SYNDROME (OMIM:617507)
Gene: CCDC88A
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: PEHO-LIKE SYNDROME (OMIM:617507)
Gene: CCDC88A
Phenotype: Congenital onset (HP:0003577)
Associated disease: PEHO-LIKE SYNDROME (OMIM:617507)
Gene: CCDC88A
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: PEHO-LIKE SYNDROME (OMIM:617507)
Gene: CCDC88A
Phenotype: Infantile encephalopathy (HP:0007105)
Associated disease: PEHO-LIKE SYNDROME (OMIM:617507)
Gene: CCDC88A
Phenotype: Optic atrophy (HP:0000648)
Associated disease: PEHO-LIKE SYNDROME (OMIM:617507)
Gene: CCDC88A
Phenotype: Profound global developmental delay (HP:0012736)
Associated disease: PEHO-LIKE SYNDROME (OMIM:617507)
Gene: CCDC88A
Phenotype: Short nose (HP:0003196)
Associated disease: PEHO-LIKE SYNDROME (OMIM:617507)
Gene: CCDC88A
Phenotype: Edema (HP:0000969)
Associated disease: PEHO-LIKE SYNDROME (OMIM:617507)
Gene: CCDC88A
Phenotype: Epicanthus (HP:0000286)
Associated disease: PEHO-LIKE SYNDROME (OMIM:617507)
Gene: CCDC88A
Phenotype: Retrognathia (HP:0000278)
Associated disease: PEHO-LIKE SYNDROME (OMIM:617507)
Gene: CCDC88A
Phenotype: Full cheeks (HP:0000293)
Associated disease: PEHO-LIKE SYNDROME (OMIM:617507)
Gene: CCDC88A
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: PEHO-LIKE SYNDROME (OMIM:617507)
Gene: CCDC88A
Phenotype: Narrow forehead (HP:0000341)
Associated disease: PEHO-LIKE SYNDROME (OMIM:617507)
Gene: CCDC88A
Phenotype: Sloping forehead (HP:0000340)
Associated disease: PEHO-LIKE SYNDROME (OMIM:617507)
Gene: TENM3
Phenotype: Macular coloboma (HP:0001116)
Associated disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9 (OMIM:615145)
Gene: TENM3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9 (OMIM:615145)
Gene: TENM3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9 (OMIM:615145)
Gene: TENM3
Phenotype: Pendular nystagmus (HP:0012043)
Associated disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9 (OMIM:615145)
Gene: TENM3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9 (OMIM:615145)
Gene: TENM3
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9 (OMIM:615145)
Gene: TENM3
Phenotype: Congenital onset (HP:0003577)
Associated disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9 (OMIM:615145)
Gene: TENM3
Phenotype: Sclerocornea (HP:0000647)
Associated disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9 (OMIM:615145)
Gene: TENM3
Phenotype: Iris coloboma (HP:0000612)
Associated disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9 (OMIM:615145)
Gene: TENM3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9 (OMIM:615145)
Gene: TENM3
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9 (OMIM:615145)
Gene: TENM3
Phenotype: Ocular anterior segment dysgenesis (HP:0007700)
Associated disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9 (OMIM:615145)
Gene: TENM3
Phenotype: Low-set ears (HP:0000369)
Associated disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9 (OMIM:615145)
Gene: TENM3
Phenotype: Long philtrum (HP:0000343)
Associated disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9 (OMIM:615145)
Gene: TENM3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9 (OMIM:615145)
Gene: TENM3
Phenotype: Macrotia (HP:0000400)
Associated disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9 (OMIM:615145)
Gene: TENM3
Phenotype: Microcornea (HP:0000482)
Associated disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9 (OMIM:615145)
Gene: TENM3
Phenotype: Ptosis (HP:0000508)
Associated disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9 (OMIM:615145)
Gene: TENM3
Phenotype: Visual impairment (HP:0000505)
Associated disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9 (OMIM:615145)
Gene: TENM3
Phenotype: Microphthalmia (HP:0000568)
Associated disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9 (OMIM:615145)
Gene: TENM3
Phenotype: Esotropia (HP:0000565)
Associated disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9 (OMIM:615145)
Gene: TENM3
Phenotype: Retinal detachment (HP:0000541)
Associated disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 9 (OMIM:615145)
Gene: WDR11
Phenotype: Brachydactyly (HP:0001156)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 78 (OMIM:620237)
Gene: WDR11
Phenotype: Optic neuropathy (HP:0001138)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 78 (OMIM:620237)
Gene: WDR11
Phenotype: Eunuchoid habitus (HP:0003782)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: WDR11
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 78 (OMIM:620237)
Gene: WDR11
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: WDR11
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 78 (OMIM:620237)
Gene: WDR11
Phenotype: Seizure (HP:0001250)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: WDR11
Phenotype: Seizure (HP:0001250)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: WDR11
Phenotype: Hypotonia (HP:0001252)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: WDR11
Phenotype: Ataxia (HP:0001251)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: WDR11
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: WDR11
Phenotype: Dysarthria (HP:0001260)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: WDR11
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: WDR11
Phenotype: Septo-optic dysplasia (HP:0100842)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: WDR11
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: WDR11
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: WDR11
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA (OMIM:614858)
Gene: WDR11
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: WDR11
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: WDR11
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: WDR11
Phenotype: Hypoplasia of the ovary (HP:0008724)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: WDR11
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: WDR11
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: WDR11
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA (OMIM:614858)
Gene: WDR11
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: WDR11
Phenotype: Micropenis (HP:0000054)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: WDR11
Phenotype: Micropenis (HP:0000054)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: WDR11
Phenotype: Micropenis (HP:0000054)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: WDR11
Phenotype: Male hypogonadism (HP:0000026)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: WDR11
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: PSIS; Ectopic neurohypophysis; Pituitary stalk interruption syndrome (ORPHA:95496)
Gene: WDR11
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: WDR11
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: WDR11
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: WDR11
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA (OMIM:614858)
Gene: WDR11
Phenotype: Azoospermia (HP:0000027)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: WDR11
Phenotype: Abnormality of body height (HP:0000002)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: WDR11
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: WDR11
Phenotype: Hypoplasia of the uterus (HP:0000013)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: WDR11
Phenotype: Abnormal morphology of female internal genitalia (HP:0000008)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: WDR11
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Gene: WDR11
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 78 (OMIM:620237)
Gene: WDR11
Phenotype: Bimanual synkinesia (HP:0001335)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: WDR11
Phenotype: Tremor (HP:0001337)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: WDR11
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA (OMIM:614858)
Gene: WDR11
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: WDR11
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: WDR11
Phenotype: Cleft palate (HP:0000175)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: WDR11
Phenotype: Cleft palate (HP:0000175)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: WDR11
Phenotype: Decreased fertility (HP:0000144)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: WDR11
Phenotype: Phenotypic abnormality (HP:0000118)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: WDR11
Phenotype: Female hypogonadism (HP:0000134)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: WDR11
Phenotype: Generalized joint hypermobility (HP:0002761)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)
Gene: WDR11
Phenotype: Recurrent fractures (HP:0002757)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: WDR11
Phenotype: Renal agenesis (HP:0000104)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: WDR11
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 78 (OMIM:620237)
Gene: WDR11
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Olfacto-genital pathological sequence; Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia (ORPHA:478)
Gene: WDR11
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: nIHH; Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism (ORPHA:432)