TaoMedAI/RareMedData huggingface dataset:
Gene: WDR81
Phenotype: Hypotonia (HP:0001252)
Associated disease: Uner Tan syndrome; Dysequilibrium syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; CAMRQ syndrome; UTS; Non-progressive cerebellar ataxia-intellectual disability syndrome (ORPHA:1766)
Gene: WDR81
Phenotype: Ataxia (HP:0001251)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2 (OMIM:610185)
Gene: WDR81
Phenotype: Ataxia (HP:0001251)
Associated disease: Uner Tan syndrome; Dysequilibrium syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; CAMRQ syndrome; UTS; Non-progressive cerebellar ataxia-intellectual disability syndrome (ORPHA:1766)
Gene: WDR81
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Uner Tan syndrome; Dysequilibrium syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; CAMRQ syndrome; UTS; Non-progressive cerebellar ataxia-intellectual disability syndrome (ORPHA:1766)
Gene: WDR81
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2 (OMIM:610185)
Gene: WDR81
Phenotype: Dysarthria (HP:0001260)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2 (OMIM:610185)
Gene: WDR81
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2 (OMIM:610185)
Gene: WDR81
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Uner Tan syndrome; Dysequilibrium syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; CAMRQ syndrome; UTS; Non-progressive cerebellar ataxia-intellectual disability syndrome (ORPHA:1766)
Gene: WDR81
Phenotype: Holoprosencephaly (HP:0001360)
Associated disease: HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES (OMIM:617967)
Gene: WDR81
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2 (OMIM:610185)
Gene: WDR81
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES (OMIM:617967)
Gene: WDR81
Phenotype: Tremor (HP:0001337)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2 (OMIM:610185)
Gene: WDR81
Phenotype: Dysmetria (HP:0001310)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2 (OMIM:610185)
Gene: WDR81
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES (OMIM:617967)
Gene: WDR81
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2 (OMIM:610185)
Gene: WDR81
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES (OMIM:617967)
Gene: WDR81
Phenotype: Redundant neck skin (HP:0005989)
Associated disease: HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES (OMIM:617967)
Gene: WDR81
Phenotype: Intention tremor (HP:0002080)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2 (OMIM:610185)
Gene: WDR81
Phenotype: Gait ataxia (HP:0002066)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2 (OMIM:610185)
Gene: WDR81
Phenotype: Truncal ataxia (HP:0002078)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2 (OMIM:610185)
Gene: WDR81
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2 (OMIM:610185)
Gene: WDR81
Phenotype: Dysdiadochokinesis (HP:0002075)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2 (OMIM:610185)
Gene: WDR81
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES (OMIM:617967)
Gene: WDR81
Phenotype: Broad-based gait (HP:0002136)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2 (OMIM:610185)
Gene: WDR81
Phenotype: Infantile onset (HP:0003593)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2 (OMIM:610185)
Gene: WDR81
Phenotype: Congenital onset (HP:0003577)
Associated disease: HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES (OMIM:617967)
Gene: WDR81
Phenotype: Global brain atrophy (HP:0002283)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2 (OMIM:610185)
Gene: WDR81
Phenotype: Atrophy of the dentate nucleus (HP:0007047)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2 (OMIM:610185)
Gene: WDR81
Phenotype: Aplasia of the inferior half of the cerebellar vermis (HP:0007063)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2 (OMIM:610185)
Gene: WDR81
Phenotype: Hirsutism (HP:0001007)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2 (OMIM:610185)
Gene: WDR81
Phenotype: Hydranencephaly (HP:0002324)
Associated disease: HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES (OMIM:617967)
Gene: WDR81
Phenotype: Small hand (HP:0200055)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2 (OMIM:610185)
Gene: WDR81
Phenotype: Short palm (HP:0004279)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2 (OMIM:610185)
Gene: WDR81
Phenotype: Intellectual disability, progressive (HP:0006887)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2 (OMIM:610185)
Gene: WDR81
Phenotype: Cerebellar agenesis (HP:0012642)
Associated disease: HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES (OMIM:617967)
Gene: WDR81
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES (OMIM:617967)
Gene: WDR81
Phenotype: Short stature (HP:0004322)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2 (OMIM:610185)
Gene: WDR81
Phenotype: Short stature (HP:0004322)
Associated disease: Uner Tan syndrome; Dysequilibrium syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; CAMRQ syndrome; UTS; Non-progressive cerebellar ataxia-intellectual disability syndrome (ORPHA:1766)
Gene: WDR81
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2 (OMIM:610185)
Gene: WDR81
Phenotype: Cerebral palsy (HP:0100021)
Associated disease: Uner Tan syndrome; Dysequilibrium syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; CAMRQ syndrome; UTS; Non-progressive cerebellar ataxia-intellectual disability syndrome (ORPHA:1766)
Gene: WDR81
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Uner Tan syndrome; Dysequilibrium syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; CAMRQ syndrome; UTS; Non-progressive cerebellar ataxia-intellectual disability syndrome (ORPHA:1766)
Gene: WDR81
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2 (OMIM:610185)
Gene: WDR81
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Uner Tan syndrome; Dysequilibrium syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; CAMRQ syndrome; UTS; Non-progressive cerebellar ataxia-intellectual disability syndrome (ORPHA:1766)
Gene: WDR81
Phenotype: Coarse facial features (HP:0000280)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2 (OMIM:610185)
Gene: WDR81
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES (OMIM:617967)
Gene: WDR81
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES (OMIM:617967)
Gene: WDR81
Phenotype: Thoracic kyphosis (HP:0002942)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2 (OMIM:610185)
Gene: WDR81
Phenotype: Thoracic scoliosis (HP:0002943)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2 (OMIM:610185)
Gene: WDR81
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2 (OMIM:610185)
Gene: WDR81
Phenotype: Strabismus (HP:0000486)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2 (OMIM:610185)
Gene: WDR81
Phenotype: Strabismus (HP:0000486)
Associated disease: Uner Tan syndrome; Dysequilibrium syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; CAMRQ syndrome; UTS; Non-progressive cerebellar ataxia-intellectual disability syndrome (ORPHA:1766)
Gene: WDR81
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Uner Tan syndrome; Dysequilibrium syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; CAMRQ syndrome; UTS; Non-progressive cerebellar ataxia-intellectual disability syndrome (ORPHA:1766)
Gene: WDR81
Phenotype: Abnormality of the neck (HP:0000464)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2 (OMIM:610185)
Gene: WDR81
Phenotype: Brain atrophy (HP:0012444)
Associated disease: HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES (OMIM:617967)
Gene: WDR81
Phenotype: Short foot (HP:0001773)
Associated disease: CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2 (OMIM:610185)
Gene: WDR81
Phenotype: Cataract (HP:0000518)
Associated disease: Uner Tan syndrome; Dysequilibrium syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; CAMRQ syndrome; UTS; Non-progressive cerebellar ataxia-intellectual disability syndrome (ORPHA:1766)
Gene: WDR81
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Uner Tan syndrome; Dysequilibrium syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; CAMRQ syndrome; UTS; Non-progressive cerebellar ataxia-intellectual disability syndrome (ORPHA:1766)
Gene: ZSWIM7
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: ZSWIM7
Phenotype: Abnormality of secondary sexual hair (HP:0009888)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: ZSWIM7
Phenotype: Ataxia (HP:0001251)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: ZSWIM7
Phenotype: Hypoplasia of the ovary (HP:0008724)
Associated disease: OVARIAN DYSGENESIS 10 (OMIM:619834)
Gene: ZSWIM7
Phenotype: Aplasia/hypoplasia of the uterus (HP:0008684)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: ZSWIM7
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: ZSWIM7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 71 (OMIM:619831)
Gene: ZSWIM7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OVARIAN DYSGENESIS 10 (OMIM:619834)
Gene: ZSWIM7
Phenotype: Decreased fertility (HP:0000144)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: ZSWIM7
Phenotype: Gonadal dysgenesis (HP:0000133)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: ZSWIM7
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: ZSWIM7
Phenotype: Streak ovary (HP:0010464)
Associated disease: OVARIAN DYSGENESIS 10 (OMIM:619834)
Gene: ZSWIM7
Phenotype: Streak ovary (HP:0010464)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: ZSWIM7
Phenotype: Elevated circulating follicle stimulating hormone level (HP:0008232)
Associated disease: OVARIAN DYSGENESIS 10 (OMIM:619834)
Gene: ZSWIM7
Phenotype: Premature ovarian insufficiency (HP:0008209)
Associated disease: OVARIAN DYSGENESIS 10 (OMIM:619834)
Gene: ZSWIM7
Phenotype: Premature ovarian insufficiency (HP:0008209)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: ZSWIM7
Phenotype: Decreased serum estradiol (HP:0008214)
Associated disease: OVARIAN DYSGENESIS 10 (OMIM:619834)
Gene: ZSWIM7
Phenotype: Decreased serum estradiol (HP:0008214)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: ZSWIM7
Phenotype: Sparse pubic hair (HP:0002225)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: ZSWIM7
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: ZSWIM7
Phenotype: Elevated circulating luteinizing hormone level (HP:0011969)
Associated disease: OVARIAN DYSGENESIS 10 (OMIM:619834)
Gene: ZSWIM7
Phenotype: Non-obstructive azoospermia (HP:0011961)
Associated disease: SPERMATOGENIC FAILURE 71 (OMIM:619831)
Gene: ZSWIM7
Phenotype: Juvenile onset (HP:0003621)
Associated disease: OVARIAN DYSGENESIS 10 (OMIM:619834)
Gene: ZSWIM7
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: ZSWIM7
Phenotype: Short stature (HP:0004322)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: ZSWIM7
Phenotype: Osteoporosis of vertebrae (HP:0005625)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: ZSWIM7
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: ZSWIM7
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE 71 (OMIM:619831)
Gene: ZSWIM7
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: OVARIAN DYSGENESIS 10 (OMIM:619834)
Gene: ZSWIM7
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: ZSWIM7
Phenotype: Sertoli cell-only phenotype (HP:0034299)
Associated disease: SPERMATOGENIC FAILURE 71 (OMIM:619831)
Gene: ZSWIM7
Phenotype: Secondary amenorrhea (HP:0000869)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: ZSWIM7
Phenotype: Increased circulating gonadotropin level (HP:0000837)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: ZSWIM7
Phenotype: Delayed puberty (HP:0000823)
Associated disease: OVARIAN DYSGENESIS 10 (OMIM:619834)
Gene: ZSWIM7
Phenotype: Delayed puberty (HP:0000823)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: ZSWIM7
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 71 (OMIM:619831)
Gene: ZSWIM7
Phenotype: Aplasia/Hypoplasia of the breasts (HP:0010311)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: ZSWIM7
Phenotype: Osteopenia (HP:0000938)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: ZSWIM7
Phenotype: Microcephaly (HP:0000252)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: ZSWIM7
Phenotype: Hearing impairment (HP:0000365)
Associated disease: 46,XX pure gonadal dysgenesis; 46,XX ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD; 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis (ORPHA:243)
Gene: MIEF2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49 (OMIM:619024)
Gene: MIEF2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49 (OMIM:619024)
Gene: MIEF2
Phenotype: Myalgia (HP:0003326)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49 (OMIM:619024)
Gene: MIEF2
Phenotype: Progressive muscle weakness (HP:0003323)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49 (OMIM:619024)
Gene: MIEF2
Phenotype: Decreased activity of mitochondrial complex III (HP:0011924)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49 (OMIM:619024)
Gene: MIEF2
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49 (OMIM:619024)
Gene: MIEF2
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49 (OMIM:619024)
Gene: MIEF2
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49 (OMIM:619024)
Gene: MIEF2
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49 (OMIM:619024)
Gene: MIEF2
Phenotype: Decreased activity of mitochondrial complex II (HP:0008314)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49 (OMIM:619024)
Gene: MIEF2
Phenotype: Cytochrome C oxidase-negative muscle fibers (HP:0003688)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49 (OMIM:619024)
Gene: MIEF2
Phenotype: Juvenile onset (HP:0003621)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49 (OMIM:619024)
Gene: MIEF2
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49 (OMIM:619024)
Gene: MIEF2
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 49 (OMIM:619024)
Gene: LOXHD1
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 77 (OMIM:613079)
Gene: LOXHD1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 77 (OMIM:613079)
Gene: LOXHD1
Phenotype: Tinnitus (HP:0000360)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 77 (OMIM:613079)
Gene: LOXHD1
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 77 (OMIM:613079)
Gene: MICOS13
Phenotype: Poor head control (HP:0002421)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37 (OMIM:618329)
Gene: MICOS13
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37 (OMIM:618329)
Gene: MICOS13
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37 (OMIM:618329)
Gene: MICOS13
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Costeff optic atrophy syndrome; MGA3; Autosomal recessive optic atrophy type 3; Infantile optic atrophy with chorea and spastic paraplegia; Costeff syndrome; 3-methylglutaconic aciduria type 3; Autosomal recessive optic atrophy plus syndrome (ORPHA:67047)
Gene: MICOS13
Phenotype: Hypotonia (HP:0001252)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37 (OMIM:618329)
Gene: MICOS13
Phenotype: Ataxia (HP:0001251)
Associated disease: Costeff optic atrophy syndrome; MGA3; Autosomal recessive optic atrophy type 3; Infantile optic atrophy with chorea and spastic paraplegia; Costeff syndrome; 3-methylglutaconic aciduria type 3; Autosomal recessive optic atrophy plus syndrome (ORPHA:67047)
Gene: MICOS13
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Costeff optic atrophy syndrome; MGA3; Autosomal recessive optic atrophy type 3; Infantile optic atrophy with chorea and spastic paraplegia; Costeff syndrome; 3-methylglutaconic aciduria type 3; Autosomal recessive optic atrophy plus syndrome (ORPHA:67047)
Gene: MICOS13
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: Costeff optic atrophy syndrome; MGA3; Autosomal recessive optic atrophy type 3; Infantile optic atrophy with chorea and spastic paraplegia; Costeff syndrome; 3-methylglutaconic aciduria type 3; Autosomal recessive optic atrophy plus syndrome (ORPHA:67047)
Gene: MICOS13
Phenotype: Dysarthria (HP:0001260)
Associated disease: Costeff optic atrophy syndrome; MGA3; Autosomal recessive optic atrophy type 3; Infantile optic atrophy with chorea and spastic paraplegia; Costeff syndrome; 3-methylglutaconic aciduria type 3; Autosomal recessive optic atrophy plus syndrome (ORPHA:67047)
Gene: MICOS13
Phenotype: Global developmental delay (HP:0001263)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37 (OMIM:618329)
Gene: MICOS13
Phenotype: Spasticity (HP:0001257)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37 (OMIM:618329)