TaoMedAI/RareMedData huggingface dataset:
Gene: SLC25A19
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Amish lethal microcephaly (ORPHA:99742)
Gene: SLC25A19
Phenotype: Gait disturbance (HP:0001288)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE) (OMIM:613710)
Gene: SLC25A19
Phenotype: Lethargy (HP:0001254)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE) (OMIM:613710)
Gene: SLC25A19
Phenotype: Hypotonia (HP:0001252)
Associated disease: Amish lethal microcephaly (ORPHA:99742)
Gene: SLC25A19
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE) (OMIM:613710)
Gene: SLC25A19
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: MICROCEPHALY, AMISH TYPE (OMIM:607196)
Gene: SLC25A19
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: Amish lethal microcephaly (ORPHA:99742)
Gene: SLC25A19
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Amish lethal microcephaly (ORPHA:99742)
Gene: SLC25A19
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MICROCEPHALY, AMISH TYPE (OMIM:607196)
Gene: SLC25A19
Phenotype: Muscle weakness (HP:0001324)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE) (OMIM:613710)
Gene: SLC25A19
Phenotype: Lissencephaly (HP:0001339)
Associated disease: Amish lethal microcephaly (ORPHA:99742)
Gene: SLC25A19
Phenotype: Partial agenesis of the corpus callosum (HP:0001338)
Associated disease: MICROCEPHALY, AMISH TYPE (OMIM:607196)
Gene: SLC25A19
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MICROCEPHALY, AMISH TYPE (OMIM:607196)
Gene: SLC25A19
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE) (OMIM:613710)
Gene: SLC25A19
Phenotype: Myoclonus (HP:0001336)
Associated disease: MICROCEPHALY, AMISH TYPE (OMIM:607196)
Gene: SLC25A19
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: Amish lethal microcephaly (ORPHA:99742)
Gene: SLC25A19
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: MICROCEPHALY, AMISH TYPE (OMIM:607196)
Gene: SLC25A19
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: MICROCEPHALY, AMISH TYPE (OMIM:607196)
Gene: SLC25A19
Phenotype: Cleft soft palate (HP:0000185)
Associated disease: Amish lethal microcephaly (ORPHA:99742)
Gene: SLC25A19
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: MICROCEPHALY, AMISH TYPE (OMIM:607196)
Gene: SLC25A19
Phenotype: Poor suck (HP:0002033)
Associated disease: MICROCEPHALY, AMISH TYPE (OMIM:607196)
Gene: SLC25A19
Phenotype: Temperature instability (HP:0005968)
Associated disease: Amish lethal microcephaly (ORPHA:99742)
Gene: SLC25A19
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Amish lethal microcephaly (ORPHA:99742)
Gene: SLC25A19
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE) (OMIM:613710)
Gene: SLC25A19
Phenotype: Paralysis (HP:0003470)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE) (OMIM:613710)
Gene: SLC25A19
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Amish lethal microcephaly (ORPHA:99742)
Gene: SLC25A19
Phenotype: Congenital onset (HP:0003577)
Associated disease: MICROCEPHALY, AMISH TYPE (OMIM:607196)
Gene: SLC25A19
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Amish lethal microcephaly (ORPHA:99742)
Gene: SLC25A19
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: MICROCEPHALY, AMISH TYPE (OMIM:607196)
Gene: SLC25A19
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: MICROCEPHALY, AMISH TYPE (OMIM:607196)
Gene: SLC25A19
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Amish lethal microcephaly (ORPHA:99742)
Gene: SLC25A19
Phenotype: Juvenile onset (HP:0003621)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE) (OMIM:613710)
Gene: SLC25A19
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Amish lethal microcephaly (ORPHA:99742)
Gene: SLC25A19
Phenotype: Optic atrophy (HP:0000648)
Associated disease: MICROCEPHALY, AMISH TYPE (OMIM:607196)
Gene: SLC25A19
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: Amish lethal microcephaly (ORPHA:99742)
Gene: SLC25A19
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: Amish lethal microcephaly (ORPHA:99742)
Gene: SLC25A19
Phenotype: Organic aciduria (HP:0001992)
Associated disease: Amish lethal microcephaly (ORPHA:99742)
Gene: SLC25A19
Phenotype: Decreased skull ossification (HP:0004331)
Associated disease: Amish lethal microcephaly (ORPHA:99742)
Gene: SLC25A19
Phenotype: Second trimester onset (HP:0034198)
Associated disease: MICROCEPHALY, AMISH TYPE (OMIM:607196)
Gene: SLC25A19
Phenotype: Irritability (HP:0000737)
Associated disease: Amish lethal microcephaly (ORPHA:99742)
Gene: SLC25A19
Phenotype: Irritability (HP:0000737)
Associated disease: MICROCEPHALY, AMISH TYPE (OMIM:607196)
Gene: SLC25A19
Phenotype: Childhood onset (HP:0011463)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE) (OMIM:613710)
Gene: SLC25A19
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: MICROCEPHALY, AMISH TYPE (OMIM:607196)
Gene: SLC25A19
Phenotype: Lower-limb joint contracture (HP:0005750)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE) (OMIM:613710)
Gene: SLC25A19
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: MICROCEPHALY, AMISH TYPE (OMIM:607196)
Gene: SLC25A19
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE) (OMIM:613710)
Gene: SLC25A19
Phenotype: Osteoporosis (HP:0000939)
Associated disease: Amish lethal microcephaly (ORPHA:99742)
Gene: SLC25A19
Phenotype: Hypoplasia of the fovea (HP:0007750)
Associated disease: MICROCEPHALY, AMISH TYPE (OMIM:607196)
Gene: SLC25A19
Phenotype: Small anterior fontanelle (HP:0000237)
Associated disease: MICROCEPHALY, AMISH TYPE (OMIM:607196)
Gene: SLC25A19
Phenotype: Microcephaly (HP:0000252)
Associated disease: Amish lethal microcephaly (ORPHA:99742)
Gene: SLC25A19
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Amish lethal microcephaly (ORPHA:99742)
Gene: SLC25A19
Phenotype: Death in infancy (HP:0001522)
Associated disease: Amish lethal microcephaly (ORPHA:99742)
Gene: SLC25A19
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MICROCEPHALY, AMISH TYPE (OMIM:607196)
Gene: SLC25A19
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE) (OMIM:613710)
Gene: SLC25A19
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Amish lethal microcephaly (ORPHA:99742)
Gene: SLC25A19
Phenotype: Sloping forehead (HP:0000340)
Associated disease: MICROCEPHALY, AMISH TYPE (OMIM:607196)
Gene: SLC25A19
Phenotype: Micrognathia (HP:0000347)
Associated disease: MICROCEPHALY, AMISH TYPE (OMIM:607196)
Gene: SLC25A19
Phenotype: Micrognathia (HP:0000347)
Associated disease: Amish lethal microcephaly (ORPHA:99742)
Gene: SLC25A19
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 4 (BILATERAL STRIATAL DEGENERATION AND PROGRESSIVE POLYNEUROPATHY TYPE) (OMIM:613710)
Gene: EDA2R
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: Christ-Siemens-Touraine syndrome; X-linked anhidrotic ectodermal dysplasia; XHED; X-linked hypohidrotic ectodermal dysplasia (ORPHA:181)
Gene: EDA2R
Phenotype: Aplasia/Hypoplasia of the eyebrow (HP:0100840)
Associated disease: Christ-Siemens-Touraine syndrome; X-linked anhidrotic ectodermal dysplasia; XHED; X-linked hypohidrotic ectodermal dysplasia (ORPHA:181)
Gene: EDA2R
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Christ-Siemens-Touraine syndrome; X-linked anhidrotic ectodermal dysplasia; XHED; X-linked hypohidrotic ectodermal dysplasia (ORPHA:181)
Gene: EDA2R
Phenotype: Sparse body hair (HP:0002231)
Associated disease: Christ-Siemens-Touraine syndrome; X-linked anhidrotic ectodermal dysplasia; XHED; X-linked hypohidrotic ectodermal dysplasia (ORPHA:181)
Gene: EDA2R
Phenotype: Type I diabetes mellitus (HP:0100651)
Associated disease: Christ-Siemens-Touraine syndrome; X-linked anhidrotic ectodermal dysplasia; XHED; X-linked hypohidrotic ectodermal dysplasia (ORPHA:181)
Gene: EDA2R
Phenotype: Everted upper lip vermilion (HP:0010803)
Associated disease: Christ-Siemens-Touraine syndrome; X-linked anhidrotic ectodermal dysplasia; XHED; X-linked hypohidrotic ectodermal dysplasia (ORPHA:181)
Gene: EDA2R
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Christ-Siemens-Touraine syndrome; X-linked anhidrotic ectodermal dysplasia; XHED; X-linked hypohidrotic ectodermal dysplasia (ORPHA:181)
Gene: EDA2R
Phenotype: Microdontia (HP:0000691)
Associated disease: Christ-Siemens-Touraine syndrome; X-linked anhidrotic ectodermal dysplasia; XHED; X-linked hypohidrotic ectodermal dysplasia (ORPHA:181)
Gene: EDA2R
Phenotype: Anterior hypopituitarism (HP:0000830)
Associated disease: Christ-Siemens-Touraine syndrome; X-linked anhidrotic ectodermal dysplasia; XHED; X-linked hypohidrotic ectodermal dysplasia (ORPHA:181)
Gene: EDA2R
Phenotype: Hypertension (HP:0000822)
Associated disease: Christ-Siemens-Touraine syndrome; X-linked anhidrotic ectodermal dysplasia; XHED; X-linked hypohidrotic ectodermal dysplasia (ORPHA:181)
Gene: EDA2R
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: Christ-Siemens-Touraine syndrome; X-linked anhidrotic ectodermal dysplasia; XHED; X-linked hypohidrotic ectodermal dysplasia (ORPHA:181)
Gene: EDA2R
Phenotype: Sparse hair (HP:0008070)
Associated disease: Christ-Siemens-Touraine syndrome; X-linked anhidrotic ectodermal dysplasia; XHED; X-linked hypohidrotic ectodermal dysplasia (ORPHA:181)
Gene: EDA2R
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: Christ-Siemens-Touraine syndrome; X-linked anhidrotic ectodermal dysplasia; XHED; X-linked hypohidrotic ectodermal dysplasia (ORPHA:181)
Gene: EDA2R
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Christ-Siemens-Touraine syndrome; X-linked anhidrotic ectodermal dysplasia; XHED; X-linked hypohidrotic ectodermal dysplasia (ORPHA:181)
Gene: BACH2
Phenotype: Perinuclear antineutrophil antibody positivity (HP:0032229)
Associated disease: IMMUNODEFICIENCY 60 (OMIM:618394)
Gene: BACH2
Phenotype: Colitis (HP:0002583)
Associated disease: IMMUNODEFICIENCY 60 (OMIM:618394)
Gene: BACH2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: IMMUNODEFICIENCY 60 (OMIM:618394)
Gene: BACH2
Phenotype: Decreased circulating IgA concentration (HP:0002720)
Associated disease: IMMUNODEFICIENCY 60 (OMIM:618394)
Gene: BACH2
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: IMMUNODEFICIENCY 60 (OMIM:618394)
Gene: BACH2
Phenotype: Pulmonary infiltrates (HP:0002113)
Associated disease: IMMUNODEFICIENCY 60 (OMIM:618394)
Gene: BACH2
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: IMMUNODEFICIENCY 60 (OMIM:618394)
Gene: BACH2
Phenotype: Pulmonary fibrosis (HP:0002206)
Associated disease: IMMUNODEFICIENCY 60 (OMIM:618394)
Gene: BACH2
Phenotype: Decreased total basophil count (HP:0031808)
Associated disease: IMMUNODEFICIENCY 60 (OMIM:618394)
Gene: BACH2
Phenotype: Fever (HP:0001945)
Associated disease: IMMUNODEFICIENCY 60 (OMIM:618394)
Gene: BACH2
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: IMMUNODEFICIENCY 60 (OMIM:618394)
Gene: BACH2
Phenotype: Crohn's disease (HP:0100280)
Associated disease: IMMUNODEFICIENCY 60 (OMIM:618394)
Gene: BACH2
Phenotype: Ulcerative colitis (HP:0100279)
Associated disease: IMMUNODEFICIENCY 60 (OMIM:618394)
Gene: BACH2
Phenotype: Decreased circulating total IgM (HP:0002850)
Associated disease: IMMUNODEFICIENCY 60 (OMIM:618394)
Gene: BACH2
Phenotype: Splenomegaly (HP:0001744)
Associated disease: IMMUNODEFICIENCY 60 (OMIM:618394)
Gene: BACH2
Phenotype: Recurrent sinopulmonary infections (HP:0005425)
Associated disease: IMMUNODEFICIENCY 60 (OMIM:618394)
Gene: BACH2
Phenotype: Decreased circulating IgE concentration (HP:0005479)
Associated disease: IMMUNODEFICIENCY 60 (OMIM:618394)
Gene: BACH2
Phenotype: Decreased proportion of memory B cells (HP:0030374)
Associated disease: IMMUNODEFICIENCY 60 (OMIM:618394)
Gene: BACH2
Phenotype: Pancytopenia (HP:0001876)
Associated disease: IMMUNODEFICIENCY 60 (OMIM:618394)
Gene: ELOVL5
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: SPINOCEREBELLAR ATAXIA 38 (OMIM:615957)
Gene: ELOVL5
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: SCA38; Spinocerebellar ataxia type 38 (ORPHA:423296)
Gene: ELOVL5
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SCA38; Spinocerebellar ataxia type 38 (ORPHA:423296)
Gene: ELOVL5
Phenotype: Gait disturbance (HP:0001288)
Associated disease: SCA38; Spinocerebellar ataxia type 38 (ORPHA:423296)
Gene: ELOVL5
Phenotype: Ataxia (HP:0001251)
Associated disease: SPINOCEREBELLAR ATAXIA 38 (OMIM:615957)
Gene: ELOVL5
Phenotype: Dysarthria (HP:0001260)
Associated disease: SCA38; Spinocerebellar ataxia type 38 (ORPHA:423296)
Gene: ELOVL5
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPINOCEREBELLAR ATAXIA 38 (OMIM:615957)
Gene: ELOVL5
Phenotype: Atrophy/Degeneration affecting the brainstem (HP:0007366)
Associated disease: SPINOCEREBELLAR ATAXIA 38 (OMIM:615957)
Gene: ELOVL5
Phenotype: Tremor (HP:0001337)
Associated disease: SCA38; Spinocerebellar ataxia type 38 (ORPHA:423296)
Gene: ELOVL5
Phenotype: Tremor (HP:0001337)
Associated disease: SPINOCEREBELLAR ATAXIA 38 (OMIM:615957)
Gene: ELOVL5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPINOCEREBELLAR ATAXIA 38 (OMIM:615957)
Gene: ELOVL5
Phenotype: Myoclonus (HP:0001336)
Associated disease: SPINOCEREBELLAR ATAXIA 38 (OMIM:615957)
Gene: ELOVL5
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SPINOCEREBELLAR ATAXIA 38 (OMIM:615957)
Gene: ELOVL5
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SCA38; Spinocerebellar ataxia type 38 (ORPHA:423296)
Gene: ELOVL5
Phenotype: Limb ataxia (HP:0002070)
Associated disease: SPINOCEREBELLAR ATAXIA 38 (OMIM:615957)
Gene: ELOVL5
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: SPINOCEREBELLAR ATAXIA 38 (OMIM:615957)
Gene: ELOVL5
Phenotype: Somatic sensory dysfunction (HP:0003474)
Associated disease: SCA38; Spinocerebellar ataxia type 38 (ORPHA:423296)
Gene: ELOVL5
Phenotype: Middle age onset (HP:0003596)
Associated disease: SPINOCEREBELLAR ATAXIA 38 (OMIM:615957)
Gene: ELOVL5
Phenotype: Slowly progressive (HP:0003677)
Associated disease: SPINOCEREBELLAR ATAXIA 38 (OMIM:615957)
Gene: ELOVL5
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: SCA38; Spinocerebellar ataxia type 38 (ORPHA:423296)
Gene: ELOVL5
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: SPINOCEREBELLAR ATAXIA 38 (OMIM:615957)
Gene: ELOVL5
Phenotype: Nystagmus (HP:0000639)
Associated disease: SCA38; Spinocerebellar ataxia type 38 (ORPHA:423296)
Gene: ELOVL5
Phenotype: Nystagmus (HP:0000639)
Associated disease: SPINOCEREBELLAR ATAXIA 38 (OMIM:615957)
Gene: ELOVL5
Phenotype: Atypical behavior (HP:0000708)
Associated disease: SCA38; Spinocerebellar ataxia type 38 (ORPHA:423296)
Gene: ELOVL5
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPINOCEREBELLAR ATAXIA 38 (OMIM:615957)
Gene: ELOVL5
Phenotype: Slow saccadic eye movements (HP:0000514)
Associated disease: SPINOCEREBELLAR ATAXIA 38 (OMIM:615957)
Gene: ELOVL5
Phenotype: Slow saccadic eye movements (HP:0000514)
Associated disease: SCA38; Spinocerebellar ataxia type 38 (ORPHA:423296)
Gene: SLC5A7
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA (OMIM:158580)
Gene: SLC5A7
Phenotype: Poor head control (HP:0002421)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC5A7
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC (OMIM:617143)
Gene: SLC5A7
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC5A7
Phenotype: Motor delay (HP:0001270)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC5A7
Phenotype: Motor delay (HP:0001270)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC (OMIM:617143)
Gene: SLC5A7
Phenotype: Gait disturbance (HP:0001288)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA (OMIM:158580)
Gene: SLC5A7
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC5A7
Phenotype: Bulbar palsy (HP:0001283)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC (OMIM:617143)
Gene: SLC5A7
Phenotype: Bulbar palsy (HP:0001283)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC5A7
Phenotype: Areflexia (HP:0001284)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC5A7
Phenotype: Seizure (HP:0001250)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC5A7
Phenotype: Hypotonia (HP:0001252)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC5A7
Phenotype: Hypotonia (HP:0001252)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC (OMIM:617143)
Gene: SLC5A7
Phenotype: Ataxia (HP:0001251)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC5A7
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC5A7
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC (OMIM:617143)
Gene: SLC5A7
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA (OMIM:158580)
Gene: SLC5A7
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC5A7
Phenotype: Waddling gait (HP:0002515)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC5A7
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC5A7
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC5A7
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC (OMIM:617143)
Gene: SLC5A7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC (OMIM:617143)
Gene: SLC5A7
Phenotype: Tremor (HP:0001337)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA (OMIM:158580)
Gene: SLC5A7
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA (OMIM:158580)
Gene: SLC5A7
Phenotype: Scoliosis (HP:0002650)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC (OMIM:617143)
Gene: SLC5A7
Phenotype: Hypoventilation (HP:0002791)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC (OMIM:617143)
Gene: SLC5A7
Phenotype: Staring gaze (HP:0025401)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC5A7
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC5A7
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC5A7
Phenotype: Poor suck (HP:0002033)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC (OMIM:617143)
Gene: SLC5A7
Phenotype: Poor suck (HP:0002033)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC5A7
Phenotype: Frontalis muscle weakness (HP:0004661)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC5A7
Phenotype: Limb-girdle muscle weakness (HP:0003325)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC5A7
Phenotype: Dysphagia (HP:0002015)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC (OMIM:617143)
Gene: SLC5A7
Phenotype: Dysphagia (HP:0002015)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC5A7
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC5A7
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC5A7
Phenotype: Respiratory arrest (HP:0005943)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC5A7
Phenotype: Easy fatigability (HP:0003388)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC5A7
Phenotype: Fatigable weakness (HP:0003473)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC (OMIM:617143)
Gene: SLC5A7
Phenotype: Fatigable weakness (HP:0003473)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC5A7
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC5A7
Phenotype: Apnea (HP:0002104)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC (OMIM:617143)
Gene: SLC5A7
Phenotype: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation (HP:0003403)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA (OMIM:158580)
Gene: SLC5A7
Phenotype: Central sleep apnea (HP:0010536)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC5A7
Phenotype: Infantile onset (HP:0003593)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC (OMIM:617143)
Gene: SLC5A7
Phenotype: Congenital onset (HP:0003577)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC (OMIM:617143)
Gene: SLC5A7
Phenotype: Episodic respiratory distress (HP:0004885)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC5A7
Phenotype: Intermittent episodes of respiratory insufficiency due to muscle weakness (HP:0004889)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC5A7
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC5A7
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC5A7
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC (OMIM:617143)
Gene: SLC5A7
Phenotype: Facial palsy (HP:0010628)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 20, PRESYNAPTIC (OMIM:617143)
Gene: SLC5A7
Phenotype: EEG with polyspike wave complexes (HP:0002392)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: SLC5A7
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE VIIA (OMIM:158580)