TaoMedAI/RareMedData huggingface dataset:
Gene: KMT2C
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: KMT2C
Phenotype: Typically de novo (HP:0025352)
Associated disease: KLEEFSTRA SYNDROME 2 (OMIM:617768)
Gene: KMT2C
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: KMT2C
Phenotype: Abnormality of the genital system (HP:0000078)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: KMT2C
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: KMT2C
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: KMT2C
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: KLEEFSTRA SYNDROME 2 (OMIM:617768)
Gene: KMT2C
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: KLEEFSTRA SYNDROME 2 (OMIM:617768)
Gene: KMT2C
Phenotype: Scoliosis (HP:0002650)
Associated disease: KLEEFSTRA SYNDROME 2 (OMIM:617768)
Gene: KMT2C
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: KMT2C
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: KMT2C
Phenotype: Bifid uvula (HP:0000193)
Associated disease: KLEEFSTRA SYNDROME 2 (OMIM:617768)
Gene: KMT2C
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: KMT2C
Phenotype: Tracheomalacia (HP:0002779)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: KMT2C
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: KMT2C
Phenotype: Anal atresia (HP:0002023)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: KMT2C
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: KMT2C
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: KMT2C
Phenotype: Midface retrusion (HP:0011800)
Associated disease: KLEEFSTRA SYNDROME 2 (OMIM:617768)
Gene: KMT2C
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: KMT2C
Phenotype: Abnormality of the musculoskeletal system (HP:0033127)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: KMT2C
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: KMT2C
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: KMT2C
Phenotype: Gliosis (HP:0002171)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: KMT2C
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: KMT2C
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: KLEEFSTRA SYNDROME 2 (OMIM:617768)
Gene: KMT2C
Phenotype: Abnormal shape of the palpebral fissure (HP:0200005)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: KMT2C
Phenotype: Severe expressive language delay (HP:0006863)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: KMT2C
Phenotype: Moderate receptive language delay (HP:0011351)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: KMT2C
Phenotype: Natal tooth (HP:0000695)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: KMT2C
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: KMT2C
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: KLEEFSTRA SYNDROME 2 (OMIM:617768)
Gene: KMT2C
Phenotype: Short stature (HP:0004322)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: KMT2C
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: KMT2C
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: KLEEFSTRA SYNDROME 2 (OMIM:617768)
Gene: KMT2C
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: KMT2C
Phenotype: Autistic behavior (HP:0000729)
Associated disease: KLEEFSTRA SYNDROME 2 (OMIM:617768)
Gene: KMT2C
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: KMT2C
Phenotype: Precocious puberty (HP:0000826)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: KMT2C
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: KMT2C
Phenotype: Kyphosis (HP:0002808)
Associated disease: KLEEFSTRA SYNDROME 2 (OMIM:617768)
Gene: KMT2C
Phenotype: Microcephaly (HP:0000252)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: KMT2C
Phenotype: Microcephaly (HP:0000252)
Associated disease: KLEEFSTRA SYNDROME 2 (OMIM:617768)
Gene: KMT2C
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: KMT2C
Phenotype: Overgrowth (HP:0001548)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: KMT2C
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: KLEEFSTRA SYNDROME 2 (OMIM:617768)
Gene: KMT2C
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: KMT2C
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: KMT2C
Phenotype: Large for gestational age (HP:0001520)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: KMT2C
Phenotype: Growth delay (HP:0001510)
Associated disease: KLEEFSTRA SYNDROME 2 (OMIM:617768)
Gene: KMT2C
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: KMT2C
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: KMT2C
Phenotype: Developmental cataract (HP:0000519)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: KMT2C
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: KLEEFSTRA SYNDROME 2 (OMIM:617768)
Gene: KMT2C
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Kleefstra syndrome due to a point mutation (ORPHA:261652)
Gene: EPS15L1
Phenotype: Split hand (HP:0001171)
Associated disease: Isolated split hand-split foot malformation; Ectrodactyly; Split hand foot malformation; SHFM (ORPHA:2440)
Gene: EPS15L1
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Isolated split hand-split foot malformation; Ectrodactyly; Split hand foot malformation; SHFM (ORPHA:2440)
Gene: EPS15L1
Phenotype: Oligodactyly (HP:0012165)
Associated disease: Isolated split hand-split foot malformation; Ectrodactyly; Split hand foot malformation; SHFM (ORPHA:2440)
Gene: EPS15L1
Phenotype: Hand monodactyly (HP:0004058)
Associated disease: Isolated split hand-split foot malformation; Ectrodactyly; Split hand foot malformation; SHFM (ORPHA:2440)
Gene: EPS15L1
Phenotype: Absent hand (HP:0004050)
Associated disease: Isolated split hand-split foot malformation; Ectrodactyly; Split hand foot malformation; SHFM (ORPHA:2440)
Gene: EPS15L1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Isolated split hand-split foot malformation; Ectrodactyly; Split hand foot malformation; SHFM (ORPHA:2440)
Gene: EPS15L1
Phenotype: Aniridia (HP:0000526)
Associated disease: Isolated split hand-split foot malformation; Ectrodactyly; Split hand foot malformation; SHFM (ORPHA:2440)
Gene: EPS15L1
Phenotype: Split foot (HP:0001839)
Associated disease: Isolated split hand-split foot malformation; Ectrodactyly; Split hand foot malformation; SHFM (ORPHA:2440)
Gene: RRAGD
Phenotype: Hyperkinetic movements (HP:0002487)
Associated disease: Kidney tubulopathy-dilated cardiomyopathy syndrome (ORPHA:73224)
Gene: RRAGD
Phenotype: Myoclonic spasms (HP:0003739)
Associated disease: Kidney tubulopathy-dilated cardiomyopathy syndrome (ORPHA:73224)
Gene: RRAGD
Phenotype: Tetany (HP:0001281)
Associated disease: HYPOMAGNESEMIA 7, RENAL, WITH OR WITHOUT DILATED CARDIOMYOPATHY (OMIM:620152)
Gene: RRAGD
Phenotype: Seizure (HP:0001250)
Associated disease: HYPOMAGNESEMIA 7, RENAL, WITH OR WITHOUT DILATED CARDIOMYOPATHY (OMIM:620152)
Gene: RRAGD
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPOMAGNESEMIA 7, RENAL, WITH OR WITHOUT DILATED CARDIOMYOPATHY (OMIM:620152)
Gene: RRAGD
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: HYPOMAGNESEMIA 7, RENAL, WITH OR WITHOUT DILATED CARDIOMYOPATHY (OMIM:620152)
Gene: RRAGD
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: Kidney tubulopathy-dilated cardiomyopathy syndrome (ORPHA:73224)
Gene: RRAGD
Phenotype: Polyuria (HP:0000103)
Associated disease: HYPOMAGNESEMIA 7, RENAL, WITH OR WITHOUT DILATED CARDIOMYOPATHY (OMIM:620152)
Gene: RRAGD
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Kidney tubulopathy-dilated cardiomyopathy syndrome (ORPHA:73224)
Gene: RRAGD
Phenotype: Pulmonary edema (HP:0100598)
Associated disease: Kidney tubulopathy-dilated cardiomyopathy syndrome (ORPHA:73224)
Gene: RRAGD
Phenotype: Hypocalcemic tetany (HP:0003472)
Associated disease: Kidney tubulopathy-dilated cardiomyopathy syndrome (ORPHA:73224)
Gene: RRAGD
Phenotype: Hypercalciuria (HP:0002150)
Associated disease: Kidney tubulopathy-dilated cardiomyopathy syndrome (ORPHA:73224)
Gene: RRAGD
Phenotype: Infantile onset (HP:0003593)
Associated disease: HYPOMAGNESEMIA 7, RENAL, WITH OR WITHOUT DILATED CARDIOMYOPATHY (OMIM:620152)
Gene: RRAGD
Phenotype: Hyperprostaglandinuria (HP:0003527)
Associated disease: Kidney tubulopathy-dilated cardiomyopathy syndrome (ORPHA:73224)
Gene: RRAGD
Phenotype: Juvenile onset (HP:0003621)
Associated disease: HYPOMAGNESEMIA 7, RENAL, WITH OR WITHOUT DILATED CARDIOMYOPATHY (OMIM:620152)
Gene: RRAGD
Phenotype: Hypermagnesiuria (HP:0012608)
Associated disease: Kidney tubulopathy-dilated cardiomyopathy syndrome (ORPHA:73224)
Gene: RRAGD
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: HYPOMAGNESEMIA 7, RENAL, WITH OR WITHOUT DILATED CARDIOMYOPATHY (OMIM:620152)
Gene: RRAGD
Phenotype: Hypokalemic metabolic alkalosis (HP:0001960)
Associated disease: Kidney tubulopathy-dilated cardiomyopathy syndrome (ORPHA:73224)
Gene: RRAGD
Phenotype: Reduced left ventricular ejection fraction (HP:0012664)
Associated disease: HYPOMAGNESEMIA 7, RENAL, WITH OR WITHOUT DILATED CARDIOMYOPATHY (OMIM:620152)
Gene: RRAGD
Phenotype: Childhood onset (HP:0011463)
Associated disease: HYPOMAGNESEMIA 7, RENAL, WITH OR WITHOUT DILATED CARDIOMYOPATHY (OMIM:620152)
Gene: RRAGD
Phenotype: Increased circulating aldosterone concentration (HP:0000859)
Associated disease: Kidney tubulopathy-dilated cardiomyopathy syndrome (ORPHA:73224)
Gene: RRAGD
Phenotype: Elevated left ventricular end-diastolic diameter (HP:0034307)
Associated disease: HYPOMAGNESEMIA 7, RENAL, WITH OR WITHOUT DILATED CARDIOMYOPATHY (OMIM:620152)
Gene: RRAGD
Phenotype: Arthralgia (HP:0002829)
Associated disease: Kidney tubulopathy-dilated cardiomyopathy syndrome (ORPHA:73224)
Gene: RRAGD
Phenotype: Abnormal renal tubular resorption (HP:0011038)
Associated disease: Kidney tubulopathy-dilated cardiomyopathy syndrome (ORPHA:73224)
Gene: RRAGD
Phenotype: Hepatic calcification (HP:0006559)
Associated disease: Kidney tubulopathy-dilated cardiomyopathy syndrome (ORPHA:73224)
Gene: RRAGD
Phenotype: Hypomagnesemia (HP:0002917)
Associated disease: Kidney tubulopathy-dilated cardiomyopathy syndrome (ORPHA:73224)
Gene: RRAGD
Phenotype: Hypomagnesemia (HP:0002917)
Associated disease: HYPOMAGNESEMIA 7, RENAL, WITH OR WITHOUT DILATED CARDIOMYOPATHY (OMIM:620152)
Gene: RRAGD
Phenotype: Hyponatremia (HP:0002902)
Associated disease: HYPOMAGNESEMIA 7, RENAL, WITH OR WITHOUT DILATED CARDIOMYOPATHY (OMIM:620152)
Gene: RRAGD
Phenotype: Hypokalemia (HP:0002900)
Associated disease: HYPOMAGNESEMIA 7, RENAL, WITH OR WITHOUT DILATED CARDIOMYOPATHY (OMIM:620152)
Gene: RRAGD
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: HYPOMAGNESEMIA 7, RENAL, WITH OR WITHOUT DILATED CARDIOMYOPATHY (OMIM:620152)
Gene: RRAGD
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: Kidney tubulopathy-dilated cardiomyopathy syndrome (ORPHA:73224)
Gene: RRAGD
Phenotype: Pericardial effusion (HP:0001698)
Associated disease: Kidney tubulopathy-dilated cardiomyopathy syndrome (ORPHA:73224)
Gene: RRAGD
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: Kidney tubulopathy-dilated cardiomyopathy syndrome (ORPHA:73224)
Gene: RRAGD
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: HYPOMAGNESEMIA 7, RENAL, WITH OR WITHOUT DILATED CARDIOMYOPATHY (OMIM:620152)
Gene: RRAGD
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Kidney tubulopathy-dilated cardiomyopathy syndrome (ORPHA:73224)
Gene: RRAGD
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Kidney tubulopathy-dilated cardiomyopathy syndrome (ORPHA:73224)
Gene: RRAGD
Phenotype: Early young adult onset (HP:0025708)
Associated disease: HYPOMAGNESEMIA 7, RENAL, WITH OR WITHOUT DILATED CARDIOMYOPATHY (OMIM:620152)
Gene: IL21
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 11 (OMIM:615767)
Gene: IL21
Phenotype: Inflammation of the large intestine (HP:0002037)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 11 (OMIM:615767)
Gene: IL21
Phenotype: Abnormal T cell count (HP:0011839)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 11 (OMIM:615767)
Gene: IL21
Phenotype: Infantile onset (HP:0003593)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 11 (OMIM:615767)
Gene: IL21
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 11 (OMIM:615767)
Gene: IL21
Phenotype: Clubbing of fingers (HP:0100759)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 11 (OMIM:615767)
Gene: IL21
Phenotype: Mucoid diarrhea (HP:0033343)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 11 (OMIM:615767)
Gene: IL21
Phenotype: Aphthous ulcer (HP:0032154)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 11 (OMIM:615767)
Gene: IL21
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 11 (OMIM:615767)
Gene: IL21
Phenotype: Increased circulating IgE concentration (HP:0003212)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 11 (OMIM:615767)
Gene: IL21
Phenotype: Crohn's disease (HP:0100280)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 11 (OMIM:615767)
Gene: IL21
Phenotype: Failure to thrive (HP:0001508)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 11 (OMIM:615767)
Gene: IL21
Phenotype: Growth delay (HP:0001510)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 11 (OMIM:615767)
Gene: IL21
Phenotype: Fatigue (HP:0012378)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 11 (OMIM:615767)
Gene: IL21
Phenotype: Decreased class-switched memory B cell proportion (HP:0030388)
Associated disease: IMMUNODEFICIENCY, COMMON VARIABLE, 11 (OMIM:615767)
Gene: PRDM12
Phenotype: Impaired vibratory sensation (HP:0002495)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII (OMIM:616488)
Gene: PRDM12
Phenotype: Gastrointestinal dysmotility (HP:0002579)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII (OMIM:616488)
Gene: PRDM12
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII (OMIM:616488)
Gene: PRDM12
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII (OMIM:616488)
Gene: PRDM12
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII (OMIM:616488)
Gene: PRDM12
Phenotype: Hypoesthesia (HP:0033748)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII (OMIM:616488)
Gene: PRDM12
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII (OMIM:616488)
Gene: PRDM12
Phenotype: Pain insensitivity (HP:0007021)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII (OMIM:616488)
Gene: PRDM12
Phenotype: Impaired proprioception (HP:0010831)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII (OMIM:616488)
Gene: PRDM12
Phenotype: Impaired temperature sensation (HP:0010829)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII (OMIM:616488)
Gene: PRDM12
Phenotype: Decreased lacrimation (HP:0000633)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII (OMIM:616488)
Gene: PRDM12
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII (OMIM:616488)
Gene: PRDM12
Phenotype: Hyposmia (HP:0004409)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII (OMIM:616488)
Gene: PRDM12
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII (OMIM:616488)
Gene: PRDM12
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII (OMIM:616488)
Gene: PRDM12
Phenotype: Recurrent skin infections (HP:0001581)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII (OMIM:616488)
Gene: PRDM12
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII (OMIM:616488)
Gene: PRDM12
Phenotype: Corneal scarring (HP:0000559)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VIII (OMIM:616488)
Gene: PRDM13
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRDM13
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM (OMIM:619761)
Gene: PRDM13
Phenotype: Hypertonia (HP:0001276)
Associated disease: CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM (OMIM:619761)
Gene: PRDM13
Phenotype: Motor delay (HP:0001270)
Associated disease: CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM (OMIM:619761)
Gene: PRDM13
Phenotype: Motor delay (HP:0001270)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 17 (OMIM:619909)
Gene: PRDM13
Phenotype: Seizure (HP:0001250)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 17 (OMIM:619909)
Gene: PRDM13
Phenotype: Seizure (HP:0001250)
Associated disease: CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM (OMIM:619761)
Gene: PRDM13
Phenotype: Hypotonia (HP:0001252)
Associated disease: CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM (OMIM:619761)
Gene: PRDM13
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM (OMIM:619761)
Gene: PRDM13
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM (OMIM:619761)
Gene: PRDM13
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 17 (OMIM:619909)
Gene: PRDM13
Phenotype: Global developmental delay (HP:0001263)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 17 (OMIM:619909)
Gene: PRDM13
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM (OMIM:619761)
Gene: PRDM13
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 17 (OMIM:619909)
Gene: PRDM13
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 17 (OMIM:619909)
Gene: PRDM13
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM (OMIM:619761)
Gene: PRDM13
Phenotype: Micropenis (HP:0000054)
Associated disease: CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM (OMIM:619761)
Gene: PRDM13
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM (OMIM:619761)
Gene: PRDM13
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM (OMIM:619761)
Gene: PRDM13
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRDM13
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 17 (OMIM:619909)
Gene: PRDM13
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM (OMIM:619761)
Gene: PRDM13
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRDM13
Phenotype: Dysmetria (HP:0001310)
Associated disease: CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM (OMIM:619761)
Gene: PRDM13
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 17 (OMIM:619909)
Gene: PRDM13
Phenotype: Scoliosis (HP:0002650)
Associated disease: CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM (OMIM:619761)
Gene: PRDM13
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM (OMIM:619761)
Gene: PRDM13
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRDM13
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: PRDM13
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 17 (OMIM:619909)
Gene: PRDM13
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 17 (OMIM:619909)
Gene: PRDM13
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 17 (OMIM:619909)
Gene: PRDM13
Phenotype: Dysphagia (HP:0002015)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 17 (OMIM:619909)
Gene: PRDM13
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 17 (OMIM:619909)
Gene: PRDM13
Phenotype: Gait ataxia (HP:0002066)
Associated disease: CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM (OMIM:619761)
Gene: PRDM13
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM (OMIM:619761)
Gene: PRDM13
Phenotype: Broad-based gait (HP:0002136)
Associated disease: CEREBELLAR DYSFUNCTION, IMPAIRED INTELLECTUAL DEVELOPMENT, AND HYPOGONADOTROPIC HYPOGONADISM (OMIM:619761)