TaoMedAI/RareMedData huggingface dataset:
Gene: SPG11
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE (OMIM:604360)
Gene: SPG11
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Autosomal recessive spastic paraplegia type 11; SPG11; Spastic paraplegia-intellectual disability-thin corpus callosum syndrome; Nakamura-Osame syndrome (ORPHA:2822)
Gene: SPG11
Phenotype: Mental deterioration (HP:0001268)
Associated disease: SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE (OMIM:604360)
Gene: SPG11
Phenotype: Head titubation (HP:0002599)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPG11
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Autosomal recessive spastic paraplegia type 11; SPG11; Spastic paraplegia-intellectual disability-thin corpus callosum syndrome; Nakamura-Osame syndrome (ORPHA:2822)
Gene: SPG11
Phenotype: Gait disturbance (HP:0001288)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPG11
Phenotype: Gait disturbance (HP:0001288)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X (OMIM:616668)
Gene: SPG11
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Autosomal recessive spastic paraplegia type 11; SPG11; Spastic paraplegia-intellectual disability-thin corpus callosum syndrome; Nakamura-Osame syndrome (ORPHA:2822)
Gene: SPG11
Phenotype: Seizure (HP:0001250)
Associated disease: Autosomal recessive spastic paraplegia type 11; SPG11; Spastic paraplegia-intellectual disability-thin corpus callosum syndrome; Nakamura-Osame syndrome (ORPHA:2822)
Gene: SPG11
Phenotype: Ataxia (HP:0001251)
Associated disease: SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE (OMIM:604360)
Gene: SPG11
Phenotype: Ataxia (HP:0001251)
Associated disease: Autosomal recessive spastic paraplegia type 11; SPG11; Spastic paraplegia-intellectual disability-thin corpus callosum syndrome; Nakamura-Osame syndrome (ORPHA:2822)
Gene: SPG11
Phenotype: Ataxia (HP:0001251)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPG11
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE (OMIM:604360)
Gene: SPG11
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X (OMIM:616668)
Gene: SPG11
Phenotype: Spastic diplegia (HP:0001264)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPG11
Phenotype: Dysarthria (HP:0001260)
Associated disease: Autosomal recessive spastic paraplegia type 11; SPG11; Spastic paraplegia-intellectual disability-thin corpus callosum syndrome; Nakamura-Osame syndrome (ORPHA:2822)
Gene: SPG11
Phenotype: Dysarthria (HP:0001260)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE (OMIM:602099)
Gene: SPG11
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE (OMIM:604360)
Gene: SPG11
Phenotype: Global developmental delay (HP:0001263)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPG11
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE (OMIM:604360)
Gene: SPG11
Phenotype: Spasticity (HP:0001257)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE (OMIM:602099)
Gene: SPG11
Phenotype: Spasticity (HP:0001257)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X (OMIM:616668)
Gene: SPG11
Phenotype: Wrist flexion contracture (HP:0001239)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X (OMIM:616668)
Gene: SPG11
Phenotype: Upper limb hyperreflexia (HP:0007350)
Associated disease: Autosomal recessive spastic paraplegia type 11; SPG11; Spastic paraplegia-intellectual disability-thin corpus callosum syndrome; Nakamura-Osame syndrome (ORPHA:2822)
Gene: SPG11
Phenotype: Upper limb hyperreflexia (HP:0007350)
Associated disease: SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE (OMIM:604360)
Gene: SPG11
Phenotype: Amyotrophic lateral sclerosis (HP:0007354)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE (OMIM:602099)
Gene: SPG11
Phenotype: Amyotrophic lateral sclerosis (HP:0007354)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPG11
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Autosomal recessive spastic paraplegia type 11; SPG11; Spastic paraplegia-intellectual disability-thin corpus callosum syndrome; Nakamura-Osame syndrome (ORPHA:2822)
Gene: SPG11
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE (OMIM:604360)
Gene: SPG11
Phenotype: Inability to walk (HP:0002540)
Associated disease: Autosomal recessive spastic paraplegia type 11; SPG11; Spastic paraplegia-intellectual disability-thin corpus callosum syndrome; Nakamura-Osame syndrome (ORPHA:2822)
Gene: SPG11
Phenotype: Inability to walk (HP:0002540)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPG11
Phenotype: Retrocollis (HP:0002544)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPG11
Phenotype: Abnormal periventricular white matter morphology (HP:0002518)
Associated disease: SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE (OMIM:604360)
Gene: SPG11
Phenotype: Axial dystonia (HP:0002530)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPG11
Phenotype: Areflexia of lower limbs (HP:0002522)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X (OMIM:616668)
Gene: SPG11
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE (OMIM:602099)
Gene: SPG11
Phenotype: Oromandibular dystonia (HP:0012048)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPG11
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE (OMIM:602099)
Gene: SPG11
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPG11
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE (OMIM:604360)
Gene: SPG11
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPG11
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE (OMIM:602099)
Gene: SPG11
Phenotype: Dystonia (HP:0001332)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPG11
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE (OMIM:602099)
Gene: SPG11
Phenotype: Specific learning disability (HP:0001328)
Associated disease: Autosomal recessive spastic paraplegia type 11; SPG11; Spastic paraplegia-intellectual disability-thin corpus callosum syndrome; Nakamura-Osame syndrome (ORPHA:2822)
Gene: SPG11
Phenotype: Specific learning disability (HP:0001328)
Associated disease: SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE (OMIM:604360)
Gene: SPG11
Phenotype: Muscle weakness (HP:0001324)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPG11
Phenotype: Urinary urgency (HP:0000012)
Associated disease: SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE (OMIM:604360)
Gene: SPG11
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE (OMIM:604360)
Gene: SPG11
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE (OMIM:602099)
Gene: SPG11
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X (OMIM:616668)
Gene: SPG11
Phenotype: Scoliosis (HP:0002650)
Associated disease: Autosomal recessive spastic paraplegia type 11; SPG11; Spastic paraplegia-intellectual disability-thin corpus callosum syndrome; Nakamura-Osame syndrome (ORPHA:2822)
Gene: SPG11
Phenotype: Scoliosis (HP:0002650)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPG11
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPG11
Phenotype: Parkinsonism (HP:0001300)
Associated disease: Autosomal recessive spastic paraplegia type 11; SPG11; Spastic paraplegia-intellectual disability-thin corpus callosum syndrome; Nakamura-Osame syndrome (ORPHA:2822)
Gene: SPG11
Phenotype: Parkinsonism (HP:0001300)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPG11
Phenotype: Proximal muscle weakness in lower limbs (HP:0008994)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X (OMIM:616668)
Gene: SPG11
Phenotype: Proximal muscle weakness in upper limbs (HP:0008997)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X (OMIM:616668)
Gene: SPG11
Phenotype: Calf muscle hypertrophy (HP:0008981)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X (OMIM:616668)
Gene: SPG11
Phenotype: Distal upper limb muscle weakness (HP:0008959)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X (OMIM:616668)
Gene: SPG11
Phenotype: Proximal lower limb amyotrophy (HP:0008956)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X (OMIM:616668)
Gene: SPG11
Phenotype: Distal lower limb amyotrophy (HP:0008944)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X (OMIM:616668)
Gene: SPG11
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X (OMIM:616668)
Gene: SPG11
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE (OMIM:602099)
Gene: SPG11
Phenotype: Dysphagia (HP:0002015)
Associated disease: Autosomal recessive spastic paraplegia type 11; SPG11; Spastic paraplegia-intellectual disability-thin corpus callosum syndrome; Nakamura-Osame syndrome (ORPHA:2822)
Gene: SPG11
Phenotype: Dysphagia (HP:0002015)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPG11
Phenotype: Dysphagia (HP:0002015)
Associated disease: SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE (OMIM:604360)
Gene: SPG11
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPG11
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE (OMIM:602099)
Gene: SPG11
Phenotype: Spastic gait (HP:0002064)
Associated disease: SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE (OMIM:604360)
Gene: SPG11
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPG11
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE (OMIM:604360)
Gene: SPG11
Phenotype: Thenar muscle atrophy (HP:0003393)
Associated disease: SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE (OMIM:604360)
Gene: SPG11
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Autosomal recessive spastic paraplegia type 11; SPG11; Spastic paraplegia-intellectual disability-thin corpus callosum syndrome; Nakamura-Osame syndrome (ORPHA:2822)
Gene: SPG11
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE (OMIM:604360)
Gene: SPG11
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X (OMIM:616668)
Gene: SPG11
Phenotype: Chorea (HP:0002072)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPG11
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Autosomal recessive spastic paraplegia type 11; SPG11; Spastic paraplegia-intellectual disability-thin corpus callosum syndrome; Nakamura-Osame syndrome (ORPHA:2822)
Gene: SPG11
Phenotype: Decreased number of peripheral myelinated nerve fibers (HP:0003380)
Associated disease: SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE (OMIM:604360)
Gene: SPG11
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: Autosomal recessive spastic paraplegia type 11; SPG11; Spastic paraplegia-intellectual disability-thin corpus callosum syndrome; Nakamura-Osame syndrome (ORPHA:2822)
Gene: SPG11
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X (OMIM:616668)
Gene: SPG11
Phenotype: Babinski sign (HP:0003487)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE (OMIM:602099)
Gene: SPG11
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE (OMIM:604360)
Gene: SPG11
Phenotype: Babinski sign (HP:0003487)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X (OMIM:616668)
Gene: SPG11
Phenotype: EMG: axonal abnormality (HP:0003482)
Associated disease: Autosomal recessive spastic paraplegia type 11; SPG11; Spastic paraplegia-intellectual disability-thin corpus callosum syndrome; Nakamura-Osame syndrome (ORPHA:2822)
Gene: SPG11
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Autosomal recessive spastic paraplegia type 11; SPG11; Spastic paraplegia-intellectual disability-thin corpus callosum syndrome; Nakamura-Osame syndrome (ORPHA:2822)
Gene: SPG11
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE (OMIM:604360)
Gene: SPG11
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPG11
Phenotype: EMG: neuropathic changes (HP:0003445)
Associated disease: Autosomal recessive spastic paraplegia type 11; SPG11; Spastic paraplegia-intellectual disability-thin corpus callosum syndrome; Nakamura-Osame syndrome (ORPHA:2822)
Gene: SPG11
Phenotype: Progressive spasticity (HP:0002191)
Associated disease: Autosomal recessive spastic paraplegia type 11; SPG11; Spastic paraplegia-intellectual disability-thin corpus callosum syndrome; Nakamura-Osame syndrome (ORPHA:2822)
Gene: SPG11
Phenotype: Clonus (HP:0002169)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPG11
Phenotype: Impaired vibration sensation in the lower limbs (HP:0002166)
Associated disease: SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE (OMIM:604360)
Gene: SPG11
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPG11
Phenotype: Opisthotonus (HP:0002179)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPG11
Phenotype: Postural tremor (HP:0002174)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X (OMIM:616668)
Gene: SPG11
Phenotype: Middle age onset (HP:0003596)
Associated disease: SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE (OMIM:604360)
Gene: SPG11
Phenotype: Distal peripheral sensory neuropathy (HP:0007067)
Associated disease: SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE (OMIM:604360)
Gene: SPG11
Phenotype: Paraparesis (HP:0002385)
Associated disease: Autosomal recessive spastic paraplegia type 11; SPG11; Spastic paraplegia-intellectual disability-thin corpus callosum syndrome; Nakamura-Osame syndrome (ORPHA:2822)
Gene: SPG11
Phenotype: Fasciculations (HP:0002380)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE (OMIM:602099)
Gene: SPG11
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE (OMIM:604360)
Gene: SPG11
Phenotype: Abnormal lower motor neuron morphology (HP:0002366)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE (OMIM:602099)
Gene: SPG11
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE (OMIM:602099)
Gene: SPG11
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: Autosomal recessive spastic paraplegia type 11; SPG11; Spastic paraplegia-intellectual disability-thin corpus callosum syndrome; Nakamura-Osame syndrome (ORPHA:2822)
Gene: SPG11
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPG11
Phenotype: Progressive (HP:0003676)
Associated disease: SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE (OMIM:604360)
Gene: SPG11
Phenotype: Lymphedema (HP:0001004)
Associated disease: Autosomal recessive spastic paraplegia type 11; SPG11; Spastic paraplegia-intellectual disability-thin corpus callosum syndrome; Nakamura-Osame syndrome (ORPHA:2822)
Gene: SPG11
Phenotype: Memory impairment (HP:0002354)
Associated disease: Autosomal recessive spastic paraplegia type 11; SPG11; Spastic paraplegia-intellectual disability-thin corpus callosum syndrome; Nakamura-Osame syndrome (ORPHA:2822)
Gene: SPG11
Phenotype: Slowly progressive (HP:0003677)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE (OMIM:602099)
Gene: SPG11
Phenotype: Slowly progressive (HP:0003677)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X (OMIM:616668)
Gene: SPG11
Phenotype: Degeneration of the lateral corticospinal tracts (HP:0002314)
Associated disease: SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE (OMIM:604360)
Gene: SPG11
Phenotype: Hypothalamic atrophy (HP:0025058)
Associated disease: Autosomal recessive spastic paraplegia type 11; SPG11; Spastic paraplegia-intellectual disability-thin corpus callosum syndrome; Nakamura-Osame syndrome (ORPHA:2822)
Gene: SPG11
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: Autosomal recessive spastic paraplegia type 11; SPG11; Spastic paraplegia-intellectual disability-thin corpus callosum syndrome; Nakamura-Osame syndrome (ORPHA:2822)
Gene: SPG11
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE (OMIM:604360)
Gene: SPG11
Phenotype: Juvenile onset (HP:0003621)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 5, JUVENILE (OMIM:602099)
Gene: SPG11
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X (OMIM:616668)
Gene: SPG11
Phenotype: Focal T2 hyperintense basal ganglia lesion (HP:0007183)
Associated disease: Autosomal recessive spastic paraplegia type 11; SPG11; Spastic paraplegia-intellectual disability-thin corpus callosum syndrome; Nakamura-Osame syndrome (ORPHA:2822)
Gene: SPG11
Phenotype: Motor polyneuropathy (HP:0007178)
Associated disease: Autosomal recessive spastic paraplegia type 11; SPG11; Spastic paraplegia-intellectual disability-thin corpus callosum syndrome; Nakamura-Osame syndrome (ORPHA:2822)
Gene: SPG11
Phenotype: Motor polyneuropathy (HP:0007178)
Associated disease: SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE (OMIM:604360)
Gene: SPG11
Phenotype: Atrophy of the spinal cord (HP:0006827)
Associated disease: Autosomal recessive spastic paraplegia type 11; SPG11; Spastic paraplegia-intellectual disability-thin corpus callosum syndrome; Nakamura-Osame syndrome (ORPHA:2822)
Gene: SPG11
Phenotype: Impaired distal vibration sensation (HP:0006886)
Associated disease: SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE (OMIM:604360)
Gene: SPG11
Phenotype: Gaze-evoked nystagmus (HP:0000640)
Associated disease: SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE (OMIM:604360)
Gene: SPG11
Phenotype: Nystagmus (HP:0000639)
Associated disease: Autosomal recessive spastic paraplegia type 11; SPG11; Spastic paraplegia-intellectual disability-thin corpus callosum syndrome; Nakamura-Osame syndrome (ORPHA:2822)
Gene: SPG11
Phenotype: Nystagmus (HP:0000639)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPG11
Phenotype: Supranuclear gaze palsy (HP:0000605)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPG11
Phenotype: Macular degeneration (HP:0000608)
Associated disease: SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE (OMIM:604360)
Gene: SPG11
Phenotype: Abnormality of pattern visual evoked potentials (HP:0030455)
Associated disease: Autosomal recessive spastic paraplegia type 11; SPG11; Spastic paraplegia-intellectual disability-thin corpus callosum syndrome; Nakamura-Osame syndrome (ORPHA:2822)
Gene: SPG11
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X (OMIM:616668)
Gene: SPG11
Phenotype: Generalized limb muscle atrophy (HP:0009055)
Associated disease: Autosomal recessive spastic paraplegia type 11; SPG11; Spastic paraplegia-intellectual disability-thin corpus callosum syndrome; Nakamura-Osame syndrome (ORPHA:2822)
Gene: SPG11
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2X (OMIM:616668)
Gene: SPG11
Phenotype: Upper limb spasticity (HP:0006986)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPG11
Phenotype: Cachexia (HP:0004326)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPG11
Phenotype: Arm dystonia (HP:0031960)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPG11
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: Autosomal recessive spastic paraplegia type 11; SPG11; Spastic paraplegia-intellectual disability-thin corpus callosum syndrome; Nakamura-Osame syndrome (ORPHA:2822)
Gene: SPG11
Phenotype: Frontal cortical atrophy (HP:0006913)
Associated disease: Autosomal recessive spastic paraplegia type 11; SPG11; Spastic paraplegia-intellectual disability-thin corpus callosum syndrome; Nakamura-Osame syndrome (ORPHA:2822)
Gene: SPG11
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: SPG11
Phenotype: Sensory neuropathy (HP:0000763)
Associated disease: SPASTIC PARAPLEGIA 11, AUTOSOMAL RECESSIVE (OMIM:604360)
Gene: SPG11
Phenotype: Short attention span (HP:0000736)
Associated disease: Autosomal recessive spastic paraplegia type 11; SPG11; Spastic paraplegia-intellectual disability-thin corpus callosum syndrome; Nakamura-Osame syndrome (ORPHA:2822)
Gene: SPG11
Phenotype: Emotional lability (HP:0000712)
Associated disease: Autosomal recessive spastic paraplegia type 11; SPG11; Spastic paraplegia-intellectual disability-thin corpus callosum syndrome; Nakamura-Osame syndrome (ORPHA:2822)