TaoMedAI/RareMedData huggingface dataset:
Gene: KIF1A
Phenotype: Tapered finger (HP:0001182)
Associated disease: Hereditary sensory and autonomic neuropathy type 2; HSAN2; Autosomal recessive sensory radicular neuropathy; Neurogenic acroosteolysis; Hereditary sensory and autonomic neuropathy type II (ORPHA:970)
Gene: KIF1A
Phenotype: Lower limb amyotrophy (HP:0007210)
Associated disease: SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT (OMIM:610357)
Gene: KIF1A
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: KIF1A
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: NESCAV SYNDROME (OMIM:614255)
Gene: KIF1A
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT (OMIM:610357)
Gene: KIF1A
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: NESCAV SYNDROME (OMIM:614255)
Gene: KIF1A
Phenotype: Areflexia (HP:0001284)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: KIF1A
Phenotype: Seizure (HP:0001250)
Associated disease: NESCAV SYNDROME (OMIM:614255)
Gene: KIF1A
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: KIF1A
Phenotype: Ataxia (HP:0001251)
Associated disease: Autosomal spastic paraplegia type 30; SPG30 (ORPHA:101010)
Gene: KIF1A
Phenotype: Ataxia (HP:0001251)
Associated disease: SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT (OMIM:610357)
Gene: KIF1A
Phenotype: Ataxia (HP:0001251)
Associated disease: NESCAV SYNDROME (OMIM:614255)
Gene: KIF1A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IIC (OMIM:614213)
Gene: KIF1A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NESCAV SYNDROME (OMIM:614255)
Gene: KIF1A
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: KIF1A
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IIC (OMIM:614213)
Gene: KIF1A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IIC (OMIM:614213)
Gene: KIF1A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NESCAV SYNDROME (OMIM:614255)
Gene: KIF1A
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT (OMIM:610357)
Gene: KIF1A
Phenotype: Spasticity (HP:0001257)
Associated disease: NESCAV SYNDROME (OMIM:614255)
Gene: KIF1A
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT (OMIM:610357)
Gene: KIF1A
Phenotype: Inability to walk (HP:0002540)
Associated disease: NESCAV SYNDROME (OMIM:614255)
Gene: KIF1A
Phenotype: Areflexia of lower limbs (HP:0002522)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IIC (OMIM:614213)
Gene: KIF1A
Phenotype: Flexion contracture (HP:0001371)
Associated disease: NESCAV SYNDROME (OMIM:614255)
Gene: KIF1A
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT (OMIM:610357)
Gene: KIF1A
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: NESCAV SYNDROME (OMIM:614255)
Gene: KIF1A
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: KIF1A
Phenotype: Autoamputation of digits (HP:0007460)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: KIF1A
Phenotype: Autoamputation of digits (HP:0007460)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IIC (OMIM:614213)
Gene: KIF1A
Phenotype: Acral ulceration (HP:0006121)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IIC (OMIM:614213)
Gene: KIF1A
Phenotype: Acral ulceration (HP:0006121)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: KIF1A
Phenotype: Painless fractures due to injury (HP:0002661)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: KIF1A
Phenotype: Absent speech (HP:0001344)
Associated disease: NESCAV SYNDROME (OMIM:614255)
Gene: KIF1A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT (OMIM:610357)
Gene: KIF1A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: KIF1A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IIC (OMIM:614213)
Gene: KIF1A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT (OMIM:610357)
Gene: KIF1A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NESCAV SYNDROME (OMIM:614255)
Gene: KIF1A
Phenotype: Hypoesthesia (HP:0033748)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IIC (OMIM:614213)
Gene: KIF1A
Phenotype: Dysmetria (HP:0001310)
Associated disease: SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT (OMIM:610357)
Gene: KIF1A
Phenotype: Wormian bones (HP:0002645)
Associated disease: Hereditary sensory and autonomic neuropathy type 2; HSAN2; Autosomal recessive sensory radicular neuropathy; Neurogenic acroosteolysis; Hereditary sensory and autonomic neuropathy type II (ORPHA:970)
Gene: KIF1A
Phenotype: Osteolysis (HP:0002797)
Associated disease: Hereditary sensory and autonomic neuropathy type 2; HSAN2; Autosomal recessive sensory radicular neuropathy; Neurogenic acroosteolysis; Hereditary sensory and autonomic neuropathy type II (ORPHA:970)
Gene: KIF1A
Phenotype: Leg muscle stiffness (HP:0008969)
Associated disease: Autosomal spastic paraplegia type 30; SPG30 (ORPHA:101010)
Gene: KIF1A
Phenotype: Intrinsic hand muscle atrophy (HP:0008954)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IIC (OMIM:614213)
Gene: KIF1A
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: NESCAV SYNDROME (OMIM:614255)
Gene: KIF1A
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: KIF1A
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: Hereditary sensory and autonomic neuropathy type 2; HSAN2; Autosomal recessive sensory radicular neuropathy; Neurogenic acroosteolysis; Hereditary sensory and autonomic neuropathy type II (ORPHA:970)
Gene: KIF1A
Phenotype: Spastic gait (HP:0002064)
Associated disease: SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT (OMIM:610357)
Gene: KIF1A
Phenotype: Spastic gait (HP:0002064)
Associated disease: Autosomal spastic paraplegia type 30; SPG30 (ORPHA:101010)
Gene: KIF1A
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT (OMIM:610357)
Gene: KIF1A
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: Autosomal spastic paraplegia type 30; SPG30 (ORPHA:101010)
Gene: KIF1A
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: NESCAV SYNDROME (OMIM:614255)
Gene: KIF1A
Phenotype: Decreased number of peripheral myelinated nerve fibers (HP:0003380)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: KIF1A
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Hereditary sensory and autonomic neuropathy type 2; HSAN2; Autosomal recessive sensory radicular neuropathy; Neurogenic acroosteolysis; Hereditary sensory and autonomic neuropathy type II (ORPHA:970)
Gene: KIF1A
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT (OMIM:610357)
Gene: KIF1A
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: NESCAV SYNDROME (OMIM:614255)
Gene: KIF1A
Phenotype: Somatic sensory dysfunction (HP:0003474)
Associated disease: Autosomal spastic paraplegia type 30; SPG30 (ORPHA:101010)
Gene: KIF1A
Phenotype: Babinski sign (HP:0003487)
Associated disease: Autosomal spastic paraplegia type 30; SPG30 (ORPHA:101010)
Gene: KIF1A
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT (OMIM:610357)
Gene: KIF1A
Phenotype: Babinski sign (HP:0003487)
Associated disease: NESCAV SYNDROME (OMIM:614255)
Gene: KIF1A
Phenotype: Decreased sensory nerve conduction velocity (HP:0003448)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: KIF1A
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: KIF1A
Phenotype: Congenital onset (HP:0003577)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IIC (OMIM:614213)
Gene: KIF1A
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: NESCAV SYNDROME (OMIM:614255)
Gene: KIF1A
Phenotype: Progressive spastic paraplegia (HP:0007020)
Associated disease: Autosomal spastic paraplegia type 30; SPG30 (ORPHA:101010)
Gene: KIF1A
Phenotype: Dystrophic fingernails (HP:0008391)
Associated disease: Hereditary sensory and autonomic neuropathy type 2; HSAN2; Autosomal recessive sensory radicular neuropathy; Neurogenic acroosteolysis; Hereditary sensory and autonomic neuropathy type II (ORPHA:970)
Gene: KIF1A
Phenotype: Episodic hyperhidrosis (HP:0001069)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: KIF1A
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: Autosomal spastic paraplegia type 30; SPG30 (ORPHA:101010)
Gene: KIF1A
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: Autosomal spastic paraplegia type 30; SPG30 (ORPHA:101010)
Gene: KIF1A
Phenotype: Progressive (HP:0003676)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IIC (OMIM:614213)
Gene: KIF1A
Phenotype: Progressive (HP:0003676)
Associated disease: NESCAV SYNDROME (OMIM:614255)
Gene: KIF1A
Phenotype: Slowly progressive (HP:0003677)
Associated disease: SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT (OMIM:610357)
Gene: KIF1A
Phenotype: Slowly progressive (HP:0003677)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: KIF1A
Phenotype: Unsteady gait (HP:0002317)
Associated disease: Autosomal spastic paraplegia type 30; SPG30 (ORPHA:101010)
Gene: KIF1A
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: KIF1A
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IIC (OMIM:614213)
Gene: KIF1A
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: Autosomal spastic paraplegia type 30; SPG30 (ORPHA:101010)
Gene: KIF1A
Phenotype: Osteolytic defects of the phalanges of the hand (HP:0009771)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: KIF1A
Phenotype: Juvenile onset (HP:0003621)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IIC (OMIM:614213)
Gene: KIF1A
Phenotype: Impaired distal proprioception (HP:0006858)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IIC (OMIM:614213)
Gene: KIF1A
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: NESCAV SYNDROME (OMIM:614255)
Gene: KIF1A
Phenotype: Impaired distal vibration sensation (HP:0006886)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IIC (OMIM:614213)
Gene: KIF1A
Phenotype: Nystagmus (HP:0000639)
Associated disease: NESCAV SYNDROME (OMIM:614255)
Gene: KIF1A
Phenotype: Optic atrophy (HP:0000648)
Associated disease: NESCAV SYNDROME (OMIM:614255)
Gene: KIF1A
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: KIF1A
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IIC (OMIM:614213)
Gene: KIF1A
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IIC (OMIM:614213)
Gene: KIF1A
Phenotype: Short stature (HP:0004322)
Associated disease: NEUROPATHY, HEREDITARY SENSORY, TYPE IIC (OMIM:614213)
Gene: KIF1A
Phenotype: Abnormality of the ankle (HP:0003028)
Associated disease: Hereditary sensory and autonomic neuropathy type 2; HSAN2; Autosomal recessive sensory radicular neuropathy; Neurogenic acroosteolysis; Hereditary sensory and autonomic neuropathy type II (ORPHA:970)
Gene: KIF1A
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: Hereditary sensory and autonomic neuropathy type 2; HSAN2; Autosomal recessive sensory radicular neuropathy; Neurogenic acroosteolysis; Hereditary sensory and autonomic neuropathy type II (ORPHA:970)
Gene: KIF1A
Phenotype: Decreased nerve conduction velocity (HP:0000762)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: KIF1A
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NESCAV SYNDROME (OMIM:614255)
Gene: KIF1A
Phenotype: Ankle clonus (HP:0011448)
Associated disease: SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT (OMIM:610357)
Gene: KIF1A
Phenotype: Abnormal cortical bone morphology (HP:0003103)
Associated disease: Hereditary sensory and autonomic neuropathy type 2; HSAN2; Autosomal recessive sensory radicular neuropathy; Neurogenic acroosteolysis; Hereditary sensory and autonomic neuropathy type II (ORPHA:970)
Gene: KIF1A
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Hereditary sensory and autonomic neuropathy type 2; HSAN2; Autosomal recessive sensory radicular neuropathy; Neurogenic acroosteolysis; Hereditary sensory and autonomic neuropathy type II (ORPHA:970)
Gene: KIF1A
Phenotype: Abnormal hip bone morphology (HP:0003272)
Associated disease: Hereditary sensory and autonomic neuropathy type 2; HSAN2; Autosomal recessive sensory radicular neuropathy; Neurogenic acroosteolysis; Hereditary sensory and autonomic neuropathy type II (ORPHA:970)
Gene: KIF1A
Phenotype: Decreased corneal reflex (HP:0008000)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: KIF1A
Phenotype: Diffuse cerebellar atrophy (HP:0100275)
Associated disease: Autosomal spastic paraplegia type 30; SPG30 (ORPHA:101010)
Gene: KIF1A
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Hereditary sensory and autonomic neuropathy type 2; HSAN2; Autosomal recessive sensory radicular neuropathy; Neurogenic acroosteolysis; Hereditary sensory and autonomic neuropathy type II (ORPHA:970)
Gene: KIF1A
Phenotype: Anhidrosis (HP:0000970)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: KIF1A
Phenotype: Appendicular spasticity (HP:0034353)
Associated disease: NESCAV SYNDROME (OMIM:614255)
Gene: KIF1A
Phenotype: Abnormality of the knee (HP:0002815)
Associated disease: Hereditary sensory and autonomic neuropathy type 2; HSAN2; Autosomal recessive sensory radicular neuropathy; Neurogenic acroosteolysis; Hereditary sensory and autonomic neuropathy type II (ORPHA:970)
Gene: KIF1A
Phenotype: Microcephaly (HP:0000252)
Associated disease: NESCAV SYNDROME (OMIM:614255)
Gene: KIF1A
Phenotype: Hypogeusia (HP:0000224)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: KIF1A
Phenotype: Urinary bladder sphincter dysfunction (HP:0002839)
Associated disease: SPASTIC PARAPLEGIA 30, AUTOSOMAL DOMINANT (OMIM:610357)
Gene: KIF1A
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: Autosomal spastic paraplegia type 30; SPG30 (ORPHA:101010)
Gene: KIF1A
Phenotype: Scissor gait (HP:0012407)
Associated disease: Autosomal spastic paraplegia type 30; SPG30 (ORPHA:101010)
Gene: KIF1A
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: NESCAV SYNDROME (OMIM:614255)
Gene: KIF1A
Phenotype: Foot acroosteolysis (HP:0001842)
Associated disease: Hereditary sensory and autonomic neuropathy type 2; HSAN2; Autosomal recessive sensory radicular neuropathy; Neurogenic acroosteolysis; Hereditary sensory and autonomic neuropathy type II (ORPHA:970)
Gene: KIF1A
Phenotype: Foot acroosteolysis (HP:0001842)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: KIF1A
Phenotype: Paronychia (HP:0001818)
Associated disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE IIA (OMIM:201300)
Gene: KIF1A
Phenotype: Dystrophic toenail (HP:0001810)
Associated disease: Hereditary sensory and autonomic neuropathy type 2; HSAN2; Autosomal recessive sensory radicular neuropathy; Neurogenic acroosteolysis; Hereditary sensory and autonomic neuropathy type II (ORPHA:970)
Gene: KIF1A
Phenotype: Abnormal saccadic eye movements (HP:0000570)
Associated disease: Autosomal spastic paraplegia type 30; SPG30 (ORPHA:101010)
Gene: AUH
Phenotype: Reduced tissue 3-methylglutaconyl-CoA hydratase activity (HP:6000577)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE I (OMIM:250950)
Gene: AUH
Phenotype: Motor delay (HP:0001270)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE I (OMIM:250950)
Gene: AUH
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: 3MG-CoA hydratase deficiency; MGA1; 3-methylglutaconyl-CoA hydratase deficiency; 3-methylglutaconic aciduria type 1 (ORPHA:67046)
Gene: AUH
Phenotype: Seizure (HP:0001250)
Associated disease: 3MG-CoA hydratase deficiency; MGA1; 3-methylglutaconyl-CoA hydratase deficiency; 3-methylglutaconic aciduria type 1 (ORPHA:67046)
Gene: AUH
Phenotype: Ataxia (HP:0001251)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE I (OMIM:250950)
Gene: AUH
Phenotype: Dysarthria (HP:0001260)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE I (OMIM:250950)
Gene: AUH
Phenotype: Global developmental delay (HP:0001263)
Associated disease: 3MG-CoA hydratase deficiency; MGA1; 3-methylglutaconyl-CoA hydratase deficiency; 3-methylglutaconic aciduria type 1 (ORPHA:67046)
Gene: AUH
Phenotype: Global developmental delay (HP:0001263)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE I (OMIM:250950)
Gene: AUH
Phenotype: Spasticity (HP:0001257)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE I (OMIM:250950)
Gene: AUH
Phenotype: Coma (HP:0001259)
Associated disease: 3MG-CoA hydratase deficiency; MGA1; 3-methylglutaconyl-CoA hydratase deficiency; 3-methylglutaconic aciduria type 1 (ORPHA:67046)
Gene: AUH
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE I (OMIM:250950)
Gene: AUH
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE I (OMIM:250950)
Gene: AUH
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE I (OMIM:250950)
Gene: AUH
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE I (OMIM:250950)
Gene: AUH
Phenotype: Dystonia (HP:0001332)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE I (OMIM:250950)
Gene: AUH
Phenotype: Dystonia (HP:0001332)
Associated disease: 3MG-CoA hydratase deficiency; MGA1; 3-methylglutaconyl-CoA hydratase deficiency; 3-methylglutaconic aciduria type 1 (ORPHA:67046)
Gene: AUH
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE I (OMIM:250950)
Gene: AUH
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE I (OMIM:250950)
Gene: AUH
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: 3MG-CoA hydratase deficiency; MGA1; 3-methylglutaconyl-CoA hydratase deficiency; 3-methylglutaconic aciduria type 1 (ORPHA:67046)
Gene: AUH
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE I (OMIM:250950)
Gene: AUH
Phenotype: Abnormal basal ganglia morphology (HP:0002134)
Associated disease: 3MG-CoA hydratase deficiency; MGA1; 3-methylglutaconyl-CoA hydratase deficiency; 3-methylglutaconic aciduria type 1 (ORPHA:67046)
Gene: AUH
Phenotype: Infantile onset (HP:0003593)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE I (OMIM:250950)
Gene: AUH
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: 3MG-CoA hydratase deficiency; MGA1; 3-methylglutaconyl-CoA hydratase deficiency; 3-methylglutaconic aciduria type 1 (ORPHA:67046)
Gene: AUH
Phenotype: Adult onset (HP:0003581)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE I (OMIM:250950)
Gene: AUH
Phenotype: 3-Methylglutaconic aciduria (HP:0003535)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE I (OMIM:250950)
Gene: AUH
Phenotype: 3-Methylglutaconic aciduria (HP:0003535)
Associated disease: 3MG-CoA hydratase deficiency; MGA1; 3-methylglutaconyl-CoA hydratase deficiency; 3-methylglutaconic aciduria type 1 (ORPHA:67046)
Gene: AUH
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE I (OMIM:250950)
Gene: AUH
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE I (OMIM:250950)
Gene: AUH
Phenotype: Athetosis (HP:0002305)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE I (OMIM:250950)
Gene: AUH
Phenotype: Optic atrophy (HP:0000648)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE I (OMIM:250950)
Gene: AUH
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: 3MG-CoA hydratase deficiency; MGA1; 3-methylglutaconyl-CoA hydratase deficiency; 3-methylglutaconic aciduria type 1 (ORPHA:67046)
Gene: AUH
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE I (OMIM:250950)
Gene: AUH
Phenotype: Short attention span (HP:0000736)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE I (OMIM:250950)
Gene: AUH
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE I (OMIM:250950)
Gene: AUH
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: 3MG-CoA hydratase deficiency; MGA1; 3-methylglutaconyl-CoA hydratase deficiency; 3-methylglutaconic aciduria type 1 (ORPHA:67046)
Gene: AUH
Phenotype: Self-mutilation (HP:0000742)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE I (OMIM:250950)
Gene: AUH
Phenotype: Dementia (HP:0000726)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE I (OMIM:250950)
Gene: AUH
Phenotype: Microcephaly (HP:0000252)
Associated disease: 3MG-CoA hydratase deficiency; MGA1; 3-methylglutaconyl-CoA hydratase deficiency; 3-methylglutaconic aciduria type 1 (ORPHA:67046)
Gene: AUH
Phenotype: Failure to thrive (HP:0001508)
Associated disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE I (OMIM:250950)
Gene: AUH
Phenotype: Failure to thrive (HP:0001508)
Associated disease: 3MG-CoA hydratase deficiency; MGA1; 3-methylglutaconyl-CoA hydratase deficiency; 3-methylglutaconic aciduria type 1 (ORPHA:67046)
Gene: AVP
Phenotype: Lethargy (HP:0001254)
Associated disease: Hereditary arginine vasopressin deficiency; Hereditary CDI; Hereditary neurogenic diabetes insipidus (ORPHA:30925)
Gene: AVP
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DIABETES INSIPIDUS, NEUROHYPOPHYSEAL (OMIM:125700)
Gene: AVP
Phenotype: Diarrhea (HP:0002014)
Associated disease: Hereditary arginine vasopressin deficiency; Hereditary CDI; Hereditary neurogenic diabetes insipidus (ORPHA:30925)
Gene: AVP
Phenotype: Vomiting (HP:0002013)
Associated disease: Hereditary arginine vasopressin deficiency; Hereditary CDI; Hereditary neurogenic diabetes insipidus (ORPHA:30925)
Gene: AVP
Phenotype: Gliosis (HP:0002171)
Associated disease: DIABETES INSIPIDUS, NEUROHYPOPHYSEAL (OMIM:125700)
Gene: AVP
Phenotype: Fever (HP:0001945)
Associated disease: Hereditary arginine vasopressin deficiency; Hereditary CDI; Hereditary neurogenic diabetes insipidus (ORPHA:30925)
Gene: AVP
Phenotype: Polydipsia (HP:0001959)
Associated disease: Hereditary arginine vasopressin deficiency; Hereditary CDI; Hereditary neurogenic diabetes insipidus (ORPHA:30925)
Gene: AVP
Phenotype: Irritability (HP:0000737)
Associated disease: Hereditary arginine vasopressin deficiency; Hereditary CDI; Hereditary neurogenic diabetes insipidus (ORPHA:30925)
Gene: AVP
Phenotype: Short nose (HP:0003196)
Associated disease: DIABETES INSIPIDUS, NEUROHYPOPHYSEAL (OMIM:125700)