TaoMedAI/RareMedData huggingface dataset:
Gene: SUZ12
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: SUZ12
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: IMAGAWA-MATSUMOTO SYNDROME (OMIM:618786)
Gene: SUZ12
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: SUZ12
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: SUZ12
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: IMAGAWA-MATSUMOTO SYNDROME (OMIM:618786)
Gene: SUZ12
Phenotype: Scoliosis (HP:0002650)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: SUZ12
Phenotype: Deep philtrum (HP:0002002)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: SUZ12
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: IMAGAWA-MATSUMOTO SYNDROME (OMIM:618786)
Gene: SUZ12
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: SUZ12
Phenotype: Fine hair (HP:0002213)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: SUZ12
Phenotype: Birth length greater than 97th percentile (HP:0003517)
Associated disease: IMAGAWA-MATSUMOTO SYNDROME (OMIM:618786)
Gene: SUZ12
Phenotype: Broad thumb (HP:0011304)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: SUZ12
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: IMAGAWA-MATSUMOTO SYNDROME (OMIM:618786)
Gene: SUZ12
Phenotype: Accelerated skeletal maturation (HP:0005616)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: SUZ12
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: SUZ12
Phenotype: Wide nasal ridge (HP:0012811)
Associated disease: IMAGAWA-MATSUMOTO SYNDROME (OMIM:618786)
Gene: SUZ12
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: IMAGAWA-MATSUMOTO SYNDROME (OMIM:618786)
Gene: SUZ12
Phenotype: Melanocytic nevus (HP:0000995)
Associated disease: IMAGAWA-MATSUMOTO SYNDROME (OMIM:618786)
Gene: SUZ12
Phenotype: Abnormally low-pitched voice (HP:0010300)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: SUZ12
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: SUZ12
Phenotype: Retrognathia (HP:0000278)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: SUZ12
Phenotype: Macrocephaly (HP:0000256)
Associated disease: IMAGAWA-MATSUMOTO SYNDROME (OMIM:618786)
Gene: SUZ12
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: SUZ12
Phenotype: Clinodactyly (HP:0030084)
Associated disease: IMAGAWA-MATSUMOTO SYNDROME (OMIM:618786)
Gene: SUZ12
Phenotype: Redundant skin (HP:0001582)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: SUZ12
Phenotype: Overgrowth (HP:0001548)
Associated disease: IMAGAWA-MATSUMOTO SYNDROME (OMIM:618786)
Gene: SUZ12
Phenotype: Anteriorly placed anus (HP:0001545)
Associated disease: IMAGAWA-MATSUMOTO SYNDROME (OMIM:618786)
Gene: SUZ12
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: IMAGAWA-MATSUMOTO SYNDROME (OMIM:618786)
Gene: SUZ12
Phenotype: Camptodactyly (HP:0012385)
Associated disease: IMAGAWA-MATSUMOTO SYNDROME (OMIM:618786)
Gene: SUZ12
Phenotype: Hoarse voice (HP:0001609)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: SUZ12
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: SUZ12
Phenotype: Long philtrum (HP:0000343)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: SUZ12
Phenotype: Broad forehead (HP:0000337)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: SUZ12
Phenotype: Prominent supraorbital ridges (HP:0000336)
Associated disease: IMAGAWA-MATSUMOTO SYNDROME (OMIM:618786)
Gene: SUZ12
Phenotype: Micrognathia (HP:0000347)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: SUZ12
Phenotype: Hypertelorism (HP:0000316)
Associated disease: IMAGAWA-MATSUMOTO SYNDROME (OMIM:618786)
Gene: SUZ12
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: SUZ12
Phenotype: Round face (HP:0000311)
Associated disease: IMAGAWA-MATSUMOTO SYNDROME (OMIM:618786)
Gene: SUZ12
Phenotype: Round face (HP:0000311)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: SUZ12
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: IMAGAWA-MATSUMOTO SYNDROME (OMIM:618786)
Gene: SUZ12
Phenotype: Macrotia (HP:0000400)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: SUZ12
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: IMAGAWA-MATSUMOTO SYNDROME (OMIM:618786)
Gene: SUZ12
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: SUZ12
Phenotype: Broad foot (HP:0001769)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: SUZ12
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: SUZ12
Phenotype: Pes cavus (HP:0001761)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: SUZ12
Phenotype: Sandal gap (HP:0001852)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: SUZ12
Phenotype: Long foot (HP:0001833)
Associated disease: IMAGAWA-MATSUMOTO SYNDROME (OMIM:618786)
Gene: SUZ12
Phenotype: Hypoplastic toenails (HP:0001800)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: SUZ12
Phenotype: Thin nail (HP:0001816)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: SUZ12
Phenotype: Deep-set nails (HP:0001814)
Associated disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Gene: SUZ12
Phenotype: Prominent forehead (HP:0011220)
Associated disease: IMAGAWA-MATSUMOTO SYNDROME (OMIM:618786)
Gene: SPIDR
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: SPIDR
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: SPIDR
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: SPIDR
Phenotype: Hypoplasia of the ovary (HP:0008724)
Associated disease: OVARIAN DYSGENESIS 9 (OMIM:619665)
Gene: SPIDR
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: SPIDR
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: SPIDR
Phenotype: Hypoplasia of the uterus (HP:0000013)
Associated disease: OVARIAN DYSGENESIS 9 (OMIM:619665)
Gene: SPIDR
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OVARIAN DYSGENESIS 9 (OMIM:619665)
Gene: SPIDR
Phenotype: Decreased circulating antimullerian hormone circulation (HP:0031103)
Associated disease: OVARIAN DYSGENESIS 9 (OMIM:619665)
Gene: SPIDR
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: SPIDR
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: SPIDR
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: SPIDR
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: OVARIAN DYSGENESIS 9 (OMIM:619665)
Gene: SPIDR
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: SPIDR
Phenotype: Elevated circulating follicle stimulating hormone level (HP:0008232)
Associated disease: OVARIAN DYSGENESIS 9 (OMIM:619665)
Gene: SPIDR
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: SPIDR
Phenotype: Premature ovarian insufficiency (HP:0008209)
Associated disease: OVARIAN DYSGENESIS 9 (OMIM:619665)
Gene: SPIDR
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: SPIDR
Phenotype: Decreased serum estradiol (HP:0008214)
Associated disease: OVARIAN DYSGENESIS 9 (OMIM:619665)
Gene: SPIDR
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: SPIDR
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: SPIDR
Phenotype: Elevated circulating luteinizing hormone level (HP:0011969)
Associated disease: OVARIAN DYSGENESIS 9 (OMIM:619665)
Gene: SPIDR
Phenotype: Juvenile onset (HP:0003621)
Associated disease: OVARIAN DYSGENESIS 9 (OMIM:619665)
Gene: SPIDR
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: SPIDR
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: SPIDR
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: SPIDR
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: SPIDR
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: SPIDR
Phenotype: Primary amenorrhea (HP:0000786)
Associated disease: OVARIAN DYSGENESIS 9 (OMIM:619665)
Gene: SPIDR
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: SPIDR
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: SPIDR
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: SPIDR
Phenotype: Delayed puberty (HP:0000823)
Associated disease: OVARIAN DYSGENESIS 9 (OMIM:619665)
Gene: SPIDR
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: SPIDR
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: SPIDR
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: SPIDR
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: SLC39A14
Phenotype: Bulbar signs (HP:0002483)
Associated disease: Dystonia-parkinsonism-hypermanganesemia syndrome (ORPHA:521406)
Gene: SLC39A14
Phenotype: Poor speech (HP:0002465)
Associated disease: Dystonia-parkinsonism-hypermanganesemia syndrome (ORPHA:521406)
Gene: SLC39A14
Phenotype: Limb dystonia (HP:0002451)
Associated disease: HYPERMANGANESEMIA WITH DYSTONIA 2 (OMIM:617013)
Gene: SLC39A14
Phenotype: Generalized dystonia (HP:0007325)
Associated disease: HYPERMANGANESEMIA WITH DYSTONIA 2 (OMIM:617013)
Gene: SLC39A14
Phenotype: Epiphora (HP:0009926)
Associated disease: HYPEROSTOSIS CRANIALIS INTERNA (OMIM:144755)
Gene: SLC39A14
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: HYPERMANGANESEMIA WITH DYSTONIA 2 (OMIM:617013)
Gene: SLC39A14
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Dystonia-parkinsonism-hypermanganesemia syndrome (ORPHA:521406)
Gene: SLC39A14
Phenotype: Gait disturbance (HP:0001288)
Associated disease: HYPERMANGANESEMIA WITH DYSTONIA 2 (OMIM:617013)
Gene: SLC39A14
Phenotype: Hypotonia (HP:0001252)
Associated disease: HYPERMANGANESEMIA WITH DYSTONIA 2 (OMIM:617013)
Gene: SLC39A14
Phenotype: Intellectual disability (HP:0001249)
Associated disease: HYPERMANGANESEMIA WITH DYSTONIA 2 (OMIM:617013)
Gene: SLC39A14
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Dystonia-parkinsonism-hypermanganesemia syndrome (ORPHA:521406)
Gene: SLC39A14
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HYPERMANGANESEMIA WITH DYSTONIA 2 (OMIM:617013)
Gene: SLC39A14
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Dystonia-parkinsonism-hypermanganesemia syndrome (ORPHA:521406)
Gene: SLC39A14
Phenotype: Spasticity (HP:0001257)
Associated disease: HYPERMANGANESEMIA WITH DYSTONIA 2 (OMIM:617013)
Gene: SLC39A14
Phenotype: Spasticity (HP:0001257)
Associated disease: Dystonia-parkinsonism-hypermanganesemia syndrome (ORPHA:521406)
Gene: SLC39A14
Phenotype: Inability to walk (HP:0002540)
Associated disease: HYPERMANGANESEMIA WITH DYSTONIA 2 (OMIM:617013)
Gene: SLC39A14
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: Dystonia-parkinsonism-hypermanganesemia syndrome (ORPHA:521406)
Gene: SLC39A14
Phenotype: Oromandibular dystonia (HP:0012048)
Associated disease: HYPERMANGANESEMIA WITH DYSTONIA 2 (OMIM:617013)
Gene: SLC39A14
Phenotype: Oromandibular dystonia (HP:0012048)
Associated disease: Dystonia-parkinsonism-hypermanganesemia syndrome (ORPHA:521406)
Gene: SLC39A14
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: HYPERMANGANESEMIA WITH DYSTONIA 2 (OMIM:617013)
Gene: SLC39A14
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: HYPERMANGANESEMIA WITH DYSTONIA 2 (OMIM:617013)
Gene: SLC39A14
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Dystonia-parkinsonism-hypermanganesemia syndrome (ORPHA:521406)
Gene: SLC39A14
Phenotype: Dystonia (HP:0001332)
Associated disease: HYPERMANGANESEMIA WITH DYSTONIA 2 (OMIM:617013)
Gene: SLC39A14
Phenotype: Dystonia (HP:0001332)
Associated disease: Dystonia-parkinsonism-hypermanganesemia syndrome (ORPHA:521406)
Gene: SLC39A14
Phenotype: Absent speech (HP:0001344)
Associated disease: HYPERMANGANESEMIA WITH DYSTONIA 2 (OMIM:617013)
Gene: SLC39A14
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPERMANGANESEMIA WITH DYSTONIA 2 (OMIM:617013)
Gene: SLC39A14
Phenotype: Tremor (HP:0001337)
Associated disease: HYPERMANGANESEMIA WITH DYSTONIA 2 (OMIM:617013)
Gene: SLC39A14
Phenotype: Tremor (HP:0001337)
Associated disease: Dystonia-parkinsonism-hypermanganesemia syndrome (ORPHA:521406)
Gene: SLC39A14
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPEROSTOSIS CRANIALIS INTERNA (OMIM:144755)
Gene: SLC39A14
Phenotype: Scoliosis (HP:0002650)
Associated disease: HYPERMANGANESEMIA WITH DYSTONIA 2 (OMIM:617013)
Gene: SLC39A14
Phenotype: Scoliosis (HP:0002650)
Associated disease: Dystonia-parkinsonism-hypermanganesemia syndrome (ORPHA:521406)
Gene: SLC39A14
Phenotype: Parkinsonism (HP:0001300)
Associated disease: HYPERMANGANESEMIA WITH DYSTONIA 2 (OMIM:617013)
Gene: SLC39A14
Phenotype: Parkinsonism (HP:0001300)
Associated disease: Dystonia-parkinsonism-hypermanganesemia syndrome (ORPHA:521406)
Gene: SLC39A14
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: HYPEROSTOSIS CRANIALIS INTERNA (OMIM:144755)
Gene: SLC39A14
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: HYPERMANGANESEMIA WITH DYSTONIA 2 (OMIM:617013)
Gene: SLC39A14
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Dystonia-parkinsonism-hypermanganesemia syndrome (ORPHA:521406)
Gene: SLC39A14
Phenotype: Bradykinesia (HP:0002067)
Associated disease: HYPERMANGANESEMIA WITH DYSTONIA 2 (OMIM:617013)
Gene: SLC39A14
Phenotype: Bradykinesia (HP:0002067)
Associated disease: Dystonia-parkinsonism-hypermanganesemia syndrome (ORPHA:521406)
Gene: SLC39A14
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: HYPERMANGANESEMIA WITH DYSTONIA 2 (OMIM:617013)
Gene: SLC39A14
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: Dystonia-parkinsonism-hypermanganesemia syndrome (ORPHA:521406)
Gene: SLC39A14
Phenotype: Babinski sign (HP:0003487)
Associated disease: HYPERMANGANESEMIA WITH DYSTONIA 2 (OMIM:617013)
Gene: SLC39A14
Phenotype: Babinski sign (HP:0003487)
Associated disease: Dystonia-parkinsonism-hypermanganesemia syndrome (ORPHA:521406)
Gene: SLC39A14
Phenotype: Opisthotonus (HP:0002179)
Associated disease: HYPERMANGANESEMIA WITH DYSTONIA 2 (OMIM:617013)
Gene: SLC39A14
Phenotype: Infantile onset (HP:0003593)
Associated disease: HYPERMANGANESEMIA WITH DYSTONIA 2 (OMIM:617013)
Gene: SLC39A14
Phenotype: Hypermanganesemia (HP:0032097)
Associated disease: Dystonia-parkinsonism-hypermanganesemia syndrome (ORPHA:521406)
Gene: SLC39A14
Phenotype: Hypermanganesemia (HP:0032097)
Associated disease: HYPERMANGANESEMIA WITH DYSTONIA 2 (OMIM:617013)
Gene: SLC39A14
Phenotype: Facial palsy (HP:0010628)
Associated disease: HYPEROSTOSIS CRANIALIS INTERNA (OMIM:144755)
Gene: SLC39A14
Phenotype: Chiari type I malformation (HP:0007099)
Associated disease: HYPEROSTOSIS CRANIALIS INTERNA (OMIM:144755)
Gene: SLC39A14
Phenotype: Hypokinesia (HP:0002375)
Associated disease: HYPERMANGANESEMIA WITH DYSTONIA 2 (OMIM:617013)
Gene: SLC39A14
Phenotype: Developmental regression (HP:0002376)
Associated disease: HYPERMANGANESEMIA WITH DYSTONIA 2 (OMIM:617013)
Gene: SLC39A14
Phenotype: Developmental regression (HP:0002376)
Associated disease: Dystonia-parkinsonism-hypermanganesemia syndrome (ORPHA:521406)
Gene: SLC39A14
Phenotype: Progressive neurologic deterioration (HP:0002344)
Associated disease: HYPERMANGANESEMIA WITH DYSTONIA 2 (OMIM:617013)
Gene: SLC39A14
Phenotype: Progressive (HP:0003676)
Associated disease: HYPERMANGANESEMIA WITH DYSTONIA 2 (OMIM:617013)
Gene: SLC39A14
Phenotype: Headache (HP:0002315)
Associated disease: HYPEROSTOSIS CRANIALIS INTERNA (OMIM:144755)
Gene: SLC39A14
Phenotype: Ocular pain (HP:0200026)
Associated disease: HYPEROSTOSIS CRANIALIS INTERNA (OMIM:144755)
Gene: SLC39A14
Phenotype: Dyskinesia (HP:0100660)
Associated disease: Dystonia-parkinsonism-hypermanganesemia syndrome (ORPHA:521406)
Gene: SLC39A14
Phenotype: Clumsiness (HP:0002312)
Associated disease: HYPERMANGANESEMIA WITH DYSTONIA 2 (OMIM:617013)
Gene: SLC39A14
Phenotype: Juvenile onset (HP:0003621)
Associated disease: HYPEROSTOSIS CRANIALIS INTERNA (OMIM:144755)
Gene: SLC39A14
Phenotype: Lower limb hypertonia (HP:0006895)
Associated disease: HYPERMANGANESEMIA WITH DYSTONIA 2 (OMIM:617013)
Gene: SLC39A14
Phenotype: Optic atrophy (HP:0000648)
Associated disease: HYPEROSTOSIS CRANIALIS INTERNA (OMIM:144755)
Gene: SLC39A14
Phenotype: Irritability (HP:0000737)
Associated disease: HYPERMANGANESEMIA WITH DYSTONIA 2 (OMIM:617013)