TaoMedAI/RareMedData huggingface dataset:
Gene: KLHL41
Phenotype: Nocturnal hypoventilation (HP:0002877)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: KLHL41
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: KLHL41
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: KLHL41
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: KLHL41
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: NEMALINE MYOPATHY 9 (OMIM:615731)
Gene: KLHL41
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KLHL41
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: KLHL41
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: KLHL41
Phenotype: Genu valgum (HP:0002857)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: KLHL41
Phenotype: Slender build (HP:0001533)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KLHL41
Phenotype: Fatiguable weakness of proximal limb muscles (HP:0030200)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: KLHL41
Phenotype: Fatigable weakness of respiratory muscles (HP:0030196)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: KLHL41
Phenotype: Fatigable weakness of bulbar muscles (HP:0030192)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KLHL41
Phenotype: Fatigable weakness of distal limb muscles (HP:0030198)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: KLHL41
Phenotype: Low-set ears (HP:0000369)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: KLHL41
Phenotype: Low-set ears (HP:0000369)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: KLHL41
Phenotype: Long philtrum (HP:0000343)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: KLHL41
Phenotype: Micrognathia (HP:0000347)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: KLHL41
Phenotype: Micrognathia (HP:0000347)
Associated disease: NEMALINE MYOPATHY 9 (OMIM:615731)
Gene: KLHL41
Phenotype: Micrognathia (HP:0000347)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KLHL41
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: KLHL41
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KLHL41
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: NEMALINE MYOPATHY 9 (OMIM:615731)
Gene: KLHL41
Phenotype: Breech presentation (HP:0001623)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: KLHL41
Phenotype: Breech presentation (HP:0001623)
Associated disease: NEMALINE MYOPATHY 9 (OMIM:615731)
Gene: KLHL41
Phenotype: Breech presentation (HP:0001623)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KLHL41
Phenotype: Premature birth (HP:0001622)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: KLHL41
Phenotype: Premature birth (HP:0001622)
Associated disease: Severe congenital nemaline myopathy (ORPHA:171430)
Gene: KLHL41
Phenotype: Genu varum (HP:0002970)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: KLHL41
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Intermediate nemaline myopathy (ORPHA:171433)
Gene: KLHL41
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KLHL41
Phenotype: Short neck (HP:0000470)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: KLHL41
Phenotype: Neck muscle weakness (HP:0000467)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KLHL41
Phenotype: Pes cavus (HP:0001761)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: KLHL41
Phenotype: Ptosis (HP:0000508)
Associated disease: Typical nemaline myopathy (ORPHA:171436)
Gene: KLHL41
Phenotype: Ptosis (HP:0000508)
Associated disease: Mild nemaline myopathy; Childhood-onset nemaline myopathy (ORPHA:171439)
Gene: RXYLT1
Phenotype: Type II lissencephaly (HP:0007260)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10 (OMIM:615041)
Gene: RXYLT1
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: RXYLT1
Phenotype: Areflexia (HP:0001284)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: RXYLT1
Phenotype: Seizure (HP:0001250)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: RXYLT1
Phenotype: Hypotonia (HP:0001252)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: RXYLT1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: RXYLT1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: RXYLT1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: RXYLT1
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: RXYLT1
Phenotype: Abnormal cortical gyration (HP:0002536)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: RXYLT1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: RXYLT1
Phenotype: Absent septum pellucidum (HP:0001331)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: RXYLT1
Phenotype: Specific learning disability (HP:0001328)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: RXYLT1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: RXYLT1
Phenotype: Lissencephaly (HP:0001339)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: RXYLT1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10 (OMIM:615041)
Gene: RXYLT1
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: RXYLT1
Phenotype: Pachygyria (HP:0001302)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: RXYLT1
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: RXYLT1
Phenotype: Bifid uvula (HP:0000193)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: RXYLT1
Phenotype: Submucous cleft hard palate (HP:0000176)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: RXYLT1
Phenotype: Cleft palate (HP:0000175)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: RXYLT1
Phenotype: Gonadal dysgenesis (HP:0000133)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10 (OMIM:615041)
Gene: RXYLT1
Phenotype: Aplasia/Hypoplasia involving the skeletal musculature (HP:0001460)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: RXYLT1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: RXYLT1
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: RXYLT1
Phenotype: Metatarsus valgus (HP:0010508)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: RXYLT1
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: RXYLT1
Phenotype: Congenital onset (HP:0003577)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10 (OMIM:615041)
Gene: RXYLT1
Phenotype: Muscular dystrophy (HP:0003560)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: RXYLT1
Phenotype: Cerebellar dysplasia (HP:0007033)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10 (OMIM:615041)
Gene: RXYLT1
Phenotype: Abnormal cerebellar vermis morphology (HP:0002334)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: RXYLT1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: RXYLT1
Phenotype: Iris coloboma (HP:0000612)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: RXYLT1
Phenotype: Abnormal circulating creatine kinase concentration (HP:0040081)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: RXYLT1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: RXYLT1
Phenotype: Abnormal circulating lactate dehydrogenase concentration (HP:0045040)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: RXYLT1
Phenotype: Neural tube defect (HP:0045005)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10 (OMIM:615041)
Gene: RXYLT1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: RXYLT1
Phenotype: Chorioretinal dysplasia (HP:0007731)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: RXYLT1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: RXYLT1
Phenotype: Microcephaly (HP:0000252)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: RXYLT1
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: RXYLT1
Phenotype: Low-set ears (HP:0000369)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: RXYLT1
Phenotype: Corneal opacity (HP:0007957)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: RXYLT1
Phenotype: Retinal dysplasia (HP:0007973)
Associated disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 10 (OMIM:615041)
Gene: RXYLT1
Phenotype: Retinal dysplasia (HP:0007973)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: RXYLT1
Phenotype: Microcornea (HP:0000482)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: RXYLT1
Phenotype: Abnormal circulating aldolase concentration (HP:0012400)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: RXYLT1
Phenotype: Protruding ear (HP:0000411)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: RXYLT1
Phenotype: Cataract (HP:0000518)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: RXYLT1
Phenotype: Anophthalmia (HP:0000528)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: RXYLT1
Phenotype: Glaucoma (HP:0000501)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: RXYLT1
Phenotype: Abnormal optic nerve morphology (HP:0000587)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: RXYLT1
Phenotype: Retinal dystrophy (HP:0000556)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: RXYLT1
Phenotype: Microphthalmia (HP:0000568)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: RXYLT1
Phenotype: Retinal detachment (HP:0000541)
Associated disease: HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; Walker-Warburg syndrome; WWS (ORPHA:899)
Gene: TFG
Phenotype: Bulbar signs (HP:0002483)
Associated disease: HMSNP; Hereditary motor and sensory neuropathy, Okinawa type; Hereditary motor and sensory neuropathy, proximal type (ORPHA:90117)
Gene: TFG
Phenotype: Tetraplegia (HP:0002445)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, OKINAWA TYPE (OMIM:604484)
Gene: TFG
Phenotype: Limb fasciculations (HP:0007289)
Associated disease: HMSNP; Hereditary motor and sensory neuropathy, Okinawa type; Hereditary motor and sensory neuropathy, proximal type (ORPHA:90117)
Gene: TFG
Phenotype: Demyelinating motor neuropathy (HP:0007220)
Associated disease: SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE (OMIM:615658)
Gene: TFG
Phenotype: Lower limb amyotrophy (HP:0007210)
Associated disease: SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE (OMIM:615658)
Gene: TFG
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, OKINAWA TYPE (OMIM:604484)
Gene: TFG
Phenotype: Gait disturbance (HP:0001288)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, OKINAWA TYPE (OMIM:604484)
Gene: TFG
Phenotype: Areflexia (HP:0001284)
Associated disease: HMSNP; Hereditary motor and sensory neuropathy, Okinawa type; Hereditary motor and sensory neuropathy, proximal type (ORPHA:90117)
Gene: TFG
Phenotype: Areflexia (HP:0001284)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, OKINAWA TYPE (OMIM:604484)
Gene: TFG
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: Spastic paraplegia due to partial TFG deficiency; SPG57; Autosomal recessive spastic paraplegia type 57 (ORPHA:431329)
Gene: TFG
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE (OMIM:615658)
Gene: TFG
Phenotype: Spasticity (HP:0001257)
Associated disease: Spastic paraplegia due to partial TFG deficiency; SPG57; Autosomal recessive spastic paraplegia type 57 (ORPHA:431329)
Gene: TFG
Phenotype: Lower cranial nerve dysfunction (HP:0410262)
Associated disease: HMSNP; Hereditary motor and sensory neuropathy, Okinawa type; Hereditary motor and sensory neuropathy, proximal type (ORPHA:90117)
Gene: TFG
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: HMSNP; Hereditary motor and sensory neuropathy, Okinawa type; Hereditary motor and sensory neuropathy, proximal type (ORPHA:90117)
Gene: TFG
Phenotype: Inability to walk (HP:0002540)
Associated disease: HMSNP; Hereditary motor and sensory neuropathy, Okinawa type; Hereditary motor and sensory neuropathy, proximal type (ORPHA:90117)
Gene: TFG
Phenotype: Inability to walk (HP:0002540)
Associated disease: Spastic paraplegia due to partial TFG deficiency; SPG57; Autosomal recessive spastic paraplegia type 57 (ORPHA:431329)
Gene: TFG
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE (OMIM:615658)
Gene: TFG
Phenotype: Abnormality of the urinary system (HP:0000079)
Associated disease: HMSNP; Hereditary motor and sensory neuropathy, Okinawa type; Hereditary motor and sensory neuropathy, proximal type (ORPHA:90117)
Gene: TFG
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE (OMIM:615658)
Gene: TFG
Phenotype: Muscle weakness (HP:0001324)
Associated disease: SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE (OMIM:615658)
Gene: TFG
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE (OMIM:615658)
Gene: TFG
Phenotype: Tremor (HP:0001337)
Associated disease: HMSNP; Hereditary motor and sensory neuropathy, Okinawa type; Hereditary motor and sensory neuropathy, proximal type (ORPHA:90117)
Gene: TFG
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, OKINAWA TYPE (OMIM:604484)
Gene: TFG
Phenotype: Distal lower limb amyotrophy (HP:0008944)
Associated disease: Spastic paraplegia due to partial TFG deficiency; SPG57; Autosomal recessive spastic paraplegia type 57 (ORPHA:431329)
Gene: TFG
Phenotype: Dysphagia (HP:0002015)
Associated disease: HMSNP; Hereditary motor and sensory neuropathy, Okinawa type; Hereditary motor and sensory neuropathy, proximal type (ORPHA:90117)
Gene: TFG
Phenotype: Dyspnea (HP:0002094)
Associated disease: HMSNP; Hereditary motor and sensory neuropathy, Okinawa type; Hereditary motor and sensory neuropathy, proximal type (ORPHA:90117)
Gene: TFG
Phenotype: Muscle spasm (HP:0003394)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, OKINAWA TYPE (OMIM:604484)
Gene: TFG
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE (OMIM:615658)
Gene: TFG
Phenotype: Decreased number of peripheral myelinated nerve fibers (HP:0003380)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, OKINAWA TYPE (OMIM:604484)
Gene: TFG
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, OKINAWA TYPE (OMIM:604484)
Gene: TFG
Phenotype: Somatic sensory dysfunction (HP:0003474)
Associated disease: HMSNP; Hereditary motor and sensory neuropathy, Okinawa type; Hereditary motor and sensory neuropathy, proximal type (ORPHA:90117)
Gene: TFG
Phenotype: Somatic sensory dysfunction (HP:0003474)
Associated disease: SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE (OMIM:615658)
Gene: TFG
Phenotype: Babinski sign (HP:0003487)
Associated disease: Spastic paraplegia due to partial TFG deficiency; SPG57; Autosomal recessive spastic paraplegia type 57 (ORPHA:431329)
Gene: TFG
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPASTIC PARAPLEGIA 57, AUTOSOMAL RECESSIVE (OMIM:615658)
Gene: TFG
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: HMSNP; Hereditary motor and sensory neuropathy, Okinawa type; Hereditary motor and sensory neuropathy, proximal type (ORPHA:90117)
Gene: TFG
Phenotype: Gliosis (HP:0002171)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, OKINAWA TYPE (OMIM:604484)
Gene: TFG
Phenotype: Muscle fibrillation (HP:0010546)
Associated disease: HMSNP; Hereditary motor and sensory neuropathy, Okinawa type; Hereditary motor and sensory neuropathy, proximal type (ORPHA:90117)
Gene: TFG
Phenotype: Adult onset (HP:0003581)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, OKINAWA TYPE (OMIM:604484)
Gene: TFG
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: Spastic paraplegia due to partial TFG deficiency; SPG57; Autosomal recessive spastic paraplegia type 57 (ORPHA:431329)
Gene: TFG
Phenotype: Respiratory failure requiring assisted ventilation (HP:0004887)
Associated disease: HMSNP; Hereditary motor and sensory neuropathy, Okinawa type; Hereditary motor and sensory neuropathy, proximal type (ORPHA:90117)
Gene: TFG
Phenotype: Intermittent painful muscle spasms (HP:0011964)
Associated disease: HMSNP; Hereditary motor and sensory neuropathy, Okinawa type; Hereditary motor and sensory neuropathy, proximal type (ORPHA:90117)
Gene: TFG
Phenotype: Aspiration pneumonia (HP:0011951)
Associated disease: HMSNP; Hereditary motor and sensory neuropathy, Okinawa type; Hereditary motor and sensory neuropathy, proximal type (ORPHA:90117)
Gene: TFG
Phenotype: Fasciculations (HP:0002380)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, OKINAWA TYPE (OMIM:604484)
Gene: TFG
Phenotype: Degeneration of anterior horn cells (HP:0002398)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, OKINAWA TYPE (OMIM:604484)
Gene: TFG
Phenotype: Difficulty standing (HP:0003698)
Associated disease: Spastic paraplegia due to partial TFG deficiency; SPG57; Autosomal recessive spastic paraplegia type 57 (ORPHA:431329)
Gene: TFG
Phenotype: Difficulty standing (HP:0003698)
Associated disease: HMSNP; Hereditary motor and sensory neuropathy, Okinawa type; Hereditary motor and sensory neuropathy, proximal type (ORPHA:90117)
Gene: TFG
Phenotype: Hand tremor (HP:0002378)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, OKINAWA TYPE (OMIM:604484)
Gene: TFG
Phenotype: Slowly progressive (HP:0003677)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, OKINAWA TYPE (OMIM:604484)
Gene: TFG
Phenotype: Abnormal seventh cranial physiology (HP:0010827)
Associated disease: HMSNP; Hereditary motor and sensory neuropathy, Okinawa type; Hereditary motor and sensory neuropathy, proximal type (ORPHA:90117)
Gene: TFG
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Spastic paraplegia due to partial TFG deficiency; SPG57; Autosomal recessive spastic paraplegia type 57 (ORPHA:431329)
Gene: TFG
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, OKINAWA TYPE (OMIM:604484)
Gene: TFG
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: Spastic paraplegia due to partial TFG deficiency; SPG57; Autosomal recessive spastic paraplegia type 57 (ORPHA:431329)
Gene: TFG
Phenotype: Proximal amyotrophy (HP:0007126)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, OKINAWA TYPE (OMIM:604484)
Gene: TFG
Phenotype: Motor polyneuropathy (HP:0007178)
Associated disease: Spastic paraplegia due to partial TFG deficiency; SPG57; Autosomal recessive spastic paraplegia type 57 (ORPHA:431329)