TaoMedAI/RareMedData huggingface dataset:
Gene: JPH3
Phenotype: Chorea (HP:0002072)
Associated disease: HUNTINGTON DISEASE-LIKE 2 (OMIM:606438)
Gene: JPH3
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Huntington disease-like 2; HDL2 (ORPHA:98934)
Gene: JPH3
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: HUNTINGTON DISEASE-LIKE 2 (OMIM:606438)
Gene: JPH3
Phenotype: Middle age onset (HP:0003596)
Associated disease: HUNTINGTON DISEASE-LIKE 2 (OMIM:606438)
Gene: JPH3
Phenotype: Action tremor (HP:0002345)
Associated disease: HUNTINGTON DISEASE-LIKE 2 (OMIM:606438)
Gene: JPH3
Phenotype: Caudate atrophy (HP:0002340)
Associated disease: Huntington disease-like 2; HDL2 (ORPHA:98934)
Gene: JPH3
Phenotype: Memory impairment (HP:0002354)
Associated disease: Huntington disease-like 2; HDL2 (ORPHA:98934)
Gene: JPH3
Phenotype: Memory impairment (HP:0002354)
Associated disease: HUNTINGTON DISEASE-LIKE 2 (OMIM:606438)
Gene: JPH3
Phenotype: Subcortical dementia (HP:0007123)
Associated disease: HUNTINGTON DISEASE-LIKE 2 (OMIM:606438)
Gene: JPH3
Phenotype: Functional motor deficit (HP:0004302)
Associated disease: Huntington disease-like 2; HDL2 (ORPHA:98934)
Gene: JPH3
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Huntington disease-like 2; HDL2 (ORPHA:98934)
Gene: JPH3
Phenotype: Personality changes (HP:0000751)
Associated disease: Huntington disease-like 2; HDL2 (ORPHA:98934)
Gene: JPH3
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Huntington disease-like 2; HDL2 (ORPHA:98934)
Gene: JPH3
Phenotype: Hallucinations (HP:0000738)
Associated disease: HUNTINGTON DISEASE-LIKE 2 (OMIM:606438)
Gene: JPH3
Phenotype: Irritability (HP:0000737)
Associated disease: HUNTINGTON DISEASE-LIKE 2 (OMIM:606438)
Gene: JPH3
Phenotype: Anxiety (HP:0000739)
Associated disease: HUNTINGTON DISEASE-LIKE 2 (OMIM:606438)
Gene: JPH3
Phenotype: Delusion (HP:0000746)
Associated disease: HUNTINGTON DISEASE-LIKE 2 (OMIM:606438)
Gene: JPH3
Phenotype: Apathy (HP:0000741)
Associated disease: HUNTINGTON DISEASE-LIKE 2 (OMIM:606438)
Gene: JPH3
Phenotype: Depression (HP:0000716)
Associated disease: HUNTINGTON DISEASE-LIKE 2 (OMIM:606438)
Gene: JPH3
Phenotype: Dementia (HP:0000726)
Associated disease: Huntington disease-like 2; HDL2 (ORPHA:98934)
Gene: JPH3
Phenotype: Dementia (HP:0000726)
Associated disease: HUNTINGTON DISEASE-LIKE 2 (OMIM:606438)
Gene: JPH3
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Huntington disease-like 2; HDL2 (ORPHA:98934)
Gene: JPH3
Phenotype: Inertia (HP:0030216)
Associated disease: HUNTINGTON DISEASE-LIKE 2 (OMIM:606438)
Gene: JPH3
Phenotype: Weight loss (HP:0001824)
Associated disease: Huntington disease-like 2; HDL2 (ORPHA:98934)
Gene: JPH3
Phenotype: Weight loss (HP:0001824)
Associated disease: HUNTINGTON DISEASE-LIKE 2 (OMIM:606438)
Gene: AICDA
Phenotype: Complete or near-complete absence of specific antibody response to tetanus vaccine (HP:0410295)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2 (OMIM:605258)
Gene: AICDA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2 (OMIM:605258)
Gene: AICDA
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2 (OMIM:605258)
Gene: AICDA
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2 (OMIM:605258)
Gene: AICDA
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2 (OMIM:605258)
Gene: AICDA
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2 (OMIM:605258)
Gene: AICDA
Phenotype: Recurrent infection of the gastrointestinal tract (HP:0004798)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2 (OMIM:605258)
Gene: AICDA
Phenotype: Increased circulating IgM level (HP:0003496)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2 (OMIM:605258)
Gene: AICDA
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2 (OMIM:605258)
Gene: AICDA
Phenotype: Recurrent upper and lower respiratory tract infections (HP:0200117)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2 (OMIM:605258)
Gene: AICDA
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2 (OMIM:605258)
Gene: AICDA
Phenotype: Childhood onset (HP:0011463)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2 (OMIM:605258)
Gene: AICDA
Phenotype: Impaired Ig class switch recombination (HP:0002959)
Associated disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2 (OMIM:605258)
Gene: CLTRN
Phenotype: Seizure (HP:0001250)
Associated disease: Aminoaciduria, Hartnup type; Hartnup disease; Hartnup disorder (ORPHA:2116)
Gene: CLTRN
Phenotype: Hypotonia (HP:0001252)
Associated disease: Aminoaciduria, Hartnup type; Hartnup disease; Hartnup disorder (ORPHA:2116)
Gene: CLTRN
Phenotype: Ataxia (HP:0001251)
Associated disease: Aminoaciduria, Hartnup type; Hartnup disease; Hartnup disorder (ORPHA:2116)
Gene: CLTRN
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Aminoaciduria, Hartnup type; Hartnup disease; Hartnup disorder (ORPHA:2116)
Gene: CLTRN
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Aminoaciduria, Hartnup type; Hartnup disease; Hartnup disorder (ORPHA:2116)
Gene: CLTRN
Phenotype: Irregular hyperpigmentation (HP:0007400)
Associated disease: Aminoaciduria, Hartnup type; Hartnup disease; Hartnup disorder (ORPHA:2116)
Gene: CLTRN
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Aminoaciduria, Hartnup type; Hartnup disease; Hartnup disorder (ORPHA:2116)
Gene: CLTRN
Phenotype: Abnormal urinary color (HP:0012086)
Associated disease: Aminoaciduria, Hartnup type; Hartnup disease; Hartnup disorder (ORPHA:2116)
Gene: CLTRN
Phenotype: Tremor (HP:0001337)
Associated disease: Aminoaciduria, Hartnup type; Hartnup disease; Hartnup disorder (ORPHA:2116)
Gene: CLTRN
Phenotype: Malabsorption (HP:0002024)
Associated disease: Aminoaciduria, Hartnup type; Hartnup disease; Hartnup disorder (ORPHA:2116)
Gene: CLTRN
Phenotype: Migraine (HP:0002076)
Associated disease: Aminoaciduria, Hartnup type; Hartnup disease; Hartnup disorder (ORPHA:2116)
Gene: CLTRN
Phenotype: Elevated urinary indican level (HP:6000130)
Associated disease: Aminoaciduria, Hartnup type; Hartnup disease; Hartnup disorder (ORPHA:2116)
Gene: CLTRN
Phenotype: Neutral hyperaminoaciduria (HP:0008353)
Associated disease: Aminoaciduria, Hartnup type; Hartnup disease; Hartnup disorder (ORPHA:2116)
Gene: CLTRN
Phenotype: Infectious encephalitis (HP:0002383)
Associated disease: Aminoaciduria, Hartnup type; Hartnup disease; Hartnup disorder (ORPHA:2116)
Gene: CLTRN
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: Aminoaciduria, Hartnup type; Hartnup disease; Hartnup disorder (ORPHA:2116)
Gene: CLTRN
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Aminoaciduria, Hartnup type; Hartnup disease; Hartnup disorder (ORPHA:2116)
Gene: CLTRN
Phenotype: Nystagmus (HP:0000639)
Associated disease: Aminoaciduria, Hartnup type; Hartnup disease; Hartnup disorder (ORPHA:2116)
Gene: CLTRN
Phenotype: Photophobia (HP:0000613)
Associated disease: Aminoaciduria, Hartnup type; Hartnup disease; Hartnup disorder (ORPHA:2116)
Gene: CLTRN
Phenotype: Short stature (HP:0004322)
Associated disease: Aminoaciduria, Hartnup type; Hartnup disease; Hartnup disorder (ORPHA:2116)
Gene: CLTRN
Phenotype: Hallucinations (HP:0000738)
Associated disease: Aminoaciduria, Hartnup type; Hartnup disease; Hartnup disorder (ORPHA:2116)
Gene: CLTRN
Phenotype: Anxiety (HP:0000739)
Associated disease: Aminoaciduria, Hartnup type; Hartnup disease; Hartnup disorder (ORPHA:2116)
Gene: CLTRN
Phenotype: Emotional lability (HP:0000712)
Associated disease: Aminoaciduria, Hartnup type; Hartnup disease; Hartnup disorder (ORPHA:2116)
Gene: CLTRN
Phenotype: Psychosis (HP:0000709)
Associated disease: Aminoaciduria, Hartnup type; Hartnup disease; Hartnup disorder (ORPHA:2116)
Gene: CLTRN
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Aminoaciduria, Hartnup type; Hartnup disease; Hartnup disorder (ORPHA:2116)
Gene: CLTRN
Phenotype: Skin rash (HP:0000988)
Associated disease: Aminoaciduria, Hartnup type; Hartnup disease; Hartnup disorder (ORPHA:2116)
Gene: CLTRN
Phenotype: Abnormal blistering of the skin (HP:0008066)
Associated disease: Aminoaciduria, Hartnup type; Hartnup disease; Hartnup disorder (ORPHA:2116)
Gene: CLTRN
Phenotype: Gingivitis (HP:0000230)
Associated disease: Aminoaciduria, Hartnup type; Hartnup disease; Hartnup disorder (ORPHA:2116)
Gene: CLTRN
Phenotype: Glossitis (HP:0000206)
Associated disease: Aminoaciduria, Hartnup type; Hartnup disease; Hartnup disorder (ORPHA:2116)
Gene: CLTRN
Phenotype: Strabismus (HP:0000486)
Associated disease: Aminoaciduria, Hartnup type; Hartnup disease; Hartnup disorder (ORPHA:2116)
Gene: CLTRN
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Aminoaciduria, Hartnup type; Hartnup disease; Hartnup disorder (ORPHA:2116)
Gene: SCYL1
Phenotype: Saccadic smooth pursuit (HP:0001152)
Associated disease: SCAR21; Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome; Autosomal recessive spinocerebellar ataxia type 21 (ORPHA:466794)
Gene: SCYL1
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21 (OMIM:616719)
Gene: SCYL1
Phenotype: Impaired pain sensation (HP:0007328)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21 (OMIM:616719)
Gene: SCYL1
Phenotype: Stuttering (HP:0025268)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21 (OMIM:616719)
Gene: SCYL1
Phenotype: Stuttering (HP:0025268)
Associated disease: SCAR21; Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome; Autosomal recessive spinocerebellar ataxia type 21 (ORPHA:466794)
Gene: SCYL1
Phenotype: Motor delay (HP:0001270)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21 (OMIM:616719)
Gene: SCYL1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21 (OMIM:616719)
Gene: SCYL1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: SCAR21; Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome; Autosomal recessive spinocerebellar ataxia type 21 (ORPHA:466794)
Gene: SCYL1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21 (OMIM:616719)
Gene: SCYL1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: SCAR21; Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome; Autosomal recessive spinocerebellar ataxia type 21 (ORPHA:466794)
Gene: SCYL1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: SCAR21; Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome; Autosomal recessive spinocerebellar ataxia type 21 (ORPHA:466794)
Gene: SCYL1
Phenotype: Spasticity (HP:0001257)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21 (OMIM:616719)
Gene: SCYL1
Phenotype: Spasticity (HP:0001257)
Associated disease: SCAR21; Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome; Autosomal recessive spinocerebellar ataxia type 21 (ORPHA:466794)
Gene: SCYL1
Phenotype: Hepatic failure (HP:0001399)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21 (OMIM:616719)
Gene: SCYL1
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: SCAR21; Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome; Autosomal recessive spinocerebellar ataxia type 21 (ORPHA:466794)
Gene: SCYL1
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21 (OMIM:616719)
Gene: SCYL1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21 (OMIM:616719)
Gene: SCYL1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SCAR21; Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome; Autosomal recessive spinocerebellar ataxia type 21 (ORPHA:466794)
Gene: SCYL1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21 (OMIM:616719)
Gene: SCYL1
Phenotype: Tremor (HP:0001337)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21 (OMIM:616719)
Gene: SCYL1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: SCAR21; Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome; Autosomal recessive spinocerebellar ataxia type 21 (ORPHA:466794)
Gene: SCYL1
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: SCAR21; Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome; Autosomal recessive spinocerebellar ataxia type 21 (ORPHA:466794)
Gene: SCYL1
Phenotype: Intention tremor (HP:0002080)
Associated disease: SCAR21; Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome; Autosomal recessive spinocerebellar ataxia type 21 (ORPHA:466794)
Gene: SCYL1
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21 (OMIM:616719)
Gene: SCYL1
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SCAR21; Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome; Autosomal recessive spinocerebellar ataxia type 21 (ORPHA:466794)
Gene: SCYL1
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: SCAR21; Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome; Autosomal recessive spinocerebellar ataxia type 21 (ORPHA:466794)
Gene: SCYL1
Phenotype: Limb ataxia (HP:0002070)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21 (OMIM:616719)
Gene: SCYL1
Phenotype: Somatic sensory dysfunction (HP:0003474)
Associated disease: SCAR21; Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome; Autosomal recessive spinocerebellar ataxia type 21 (ORPHA:466794)
Gene: SCYL1
Phenotype: Paresthesia (HP:0003401)
Associated disease: SCAR21; Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome; Autosomal recessive spinocerebellar ataxia type 21 (ORPHA:466794)
Gene: SCYL1
Phenotype: Paresthesia (HP:0003401)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21 (OMIM:616719)
Gene: SCYL1
Phenotype: Infantile onset (HP:0003593)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21 (OMIM:616719)
Gene: SCYL1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21 (OMIM:616719)
Gene: SCYL1
Phenotype: Frequent falls (HP:0002359)
Associated disease: SCAR21; Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome; Autosomal recessive spinocerebellar ataxia type 21 (ORPHA:466794)
Gene: SCYL1
Phenotype: Frequent falls (HP:0002359)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21 (OMIM:616719)
Gene: SCYL1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: SCAR21; Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome; Autosomal recessive spinocerebellar ataxia type 21 (ORPHA:466794)
Gene: SCYL1
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21 (OMIM:616719)
Gene: SCYL1
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: SCAR21; Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome; Autosomal recessive spinocerebellar ataxia type 21 (ORPHA:466794)
Gene: SCYL1
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21 (OMIM:616719)
Gene: SCYL1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: SCAR21; Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome; Autosomal recessive spinocerebellar ataxia type 21 (ORPHA:466794)
Gene: SCYL1
Phenotype: Dysmetric saccades (HP:0000641)
Associated disease: SCAR21; Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome; Autosomal recessive spinocerebellar ataxia type 21 (ORPHA:466794)
Gene: SCYL1
Phenotype: Fever (HP:0001945)
Associated disease: SCAR21; Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome; Autosomal recessive spinocerebellar ataxia type 21 (ORPHA:466794)
Gene: SCYL1
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: SCAR21; Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome; Autosomal recessive spinocerebellar ataxia type 21 (ORPHA:466794)
Gene: SCYL1
Phenotype: Generalized limb muscle atrophy (HP:0009055)
Associated disease: SCAR21; Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome; Autosomal recessive spinocerebellar ataxia type 21 (ORPHA:466794)
Gene: SCYL1
Phenotype: Childhood onset (HP:0011463)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21 (OMIM:616719)
Gene: SCYL1
Phenotype: Hepatic bridging fibrosis (HP:0012852)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21 (OMIM:616719)
Gene: SCYL1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21 (OMIM:616719)
Gene: SCYL1
Phenotype: Acute hepatic failure (HP:0006554)
Associated disease: SCAR21; Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome; Autosomal recessive spinocerebellar ataxia type 21 (ORPHA:466794)
Gene: SCYL1
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21 (OMIM:616719)
Gene: SCYL1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21 (OMIM:616719)
Gene: SCYL1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 21 (OMIM:616719)
Gene: SCYL1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: SCAR21; Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome; Autosomal recessive spinocerebellar ataxia type 21 (ORPHA:466794)
Gene: PLEKHG5
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C (OMIM:615376)
Gene: PLEKHG5
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4 (OMIM:611067)
Gene: PLEKHG5
Phenotype: Spinal muscular atrophy (HP:0007269)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4 (OMIM:611067)
Gene: PLEKHG5
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4 (OMIM:611067)
Gene: PLEKHG5
Phenotype: Gait disturbance (HP:0001288)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4 (OMIM:611067)
Gene: PLEKHG5
Phenotype: Areflexia (HP:0001284)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C (OMIM:615376)
Gene: PLEKHG5
Phenotype: Areflexia (HP:0001284)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4 (OMIM:611067)
Gene: PLEKHG5
Phenotype: Waddling gait (HP:0002515)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4 (OMIM:611067)
Gene: PLEKHG5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4 (OMIM:611067)
Gene: PLEKHG5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C (OMIM:615376)
Gene: PLEKHG5
Phenotype: Scoliosis (HP:0002650)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4 (OMIM:611067)
Gene: PLEKHG5
Phenotype: Scoliosis (HP:0002650)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C (OMIM:615376)
Gene: PLEKHG5
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4 (OMIM:611067)
Gene: PLEKHG5
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4 (OMIM:611067)
Gene: PLEKHG5
Phenotype: Steppage gait (HP:0003376)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C (OMIM:615376)
Gene: PLEKHG5
Phenotype: Decreased number of large peripheral myelinated nerve fibers (HP:0003387)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C (OMIM:615376)
Gene: PLEKHG5
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C (OMIM:615376)
Gene: PLEKHG5
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4 (OMIM:611067)
Gene: PLEKHG5
Phenotype: Somatic sensory dysfunction (HP:0003474)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C (OMIM:615376)
Gene: PLEKHG5
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C (OMIM:615376)
Gene: PLEKHG5
Phenotype: EMG: neuropathic changes (HP:0003445)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4 (OMIM:611067)
Gene: PLEKHG5
Phenotype: Middle age onset (HP:0003596)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C (OMIM:615376)
Gene: PLEKHG5
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4 (OMIM:611067)
Gene: PLEKHG5
Phenotype: Abnormal lower motor neuron morphology (HP:0002366)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4 (OMIM:611067)
Gene: PLEKHG5
Phenotype: Scapuloperoneal amyotrophy (HP:0003697)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4 (OMIM:611067)
Gene: PLEKHG5
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C (OMIM:615376)
Gene: PLEKHG5
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4 (OMIM:611067)
Gene: PLEKHG5
Phenotype: Rapidly progressive (HP:0003678)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4 (OMIM:611067)
Gene: PLEKHG5
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C (OMIM:615376)
Gene: PLEKHG5
Phenotype: Childhood onset (HP:0011463)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4 (OMIM:611067)
Gene: PLEKHG5
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C (OMIM:615376)
Gene: PLEKHG5
Phenotype: Hammertoe (HP:0001765)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C (OMIM:615376)
Gene: PLEKHG5
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 4 (OMIM:611067)
Gene: PLEKHG5
Phenotype: Pes cavus (HP:0001761)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, RECESSIVE INTERMEDIATE C (OMIM:615376)
Gene: GATAD2B
Phenotype: Poor speech (HP:0002465)
Associated disease: GAND SYNDROME (OMIM:615074)
Gene: GATAD2B
Phenotype: Poor speech (HP:0002465)
Associated disease: Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome (ORPHA:363686)
Gene: GATAD2B
Phenotype: Language impairment (HP:0002463)
Associated disease: GAND SYNDROME (OMIM:615074)
Gene: GATAD2B
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: GAND SYNDROME (OMIM:615074)