TaoMedAI/RareMedData huggingface dataset:
Gene: GAD1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89 (OMIM:619124)
Gene: GAD1
Phenotype: Omphalocele (HP:0001539)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89 (OMIM:619124)
Gene: GAD1
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89 (OMIM:619124)
Gene: GAD1
Phenotype: Flat face (HP:0012368)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89 (OMIM:619124)
Gene: GAD1
Phenotype: Low-set ears (HP:0000369)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89 (OMIM:619124)
Gene: GAD1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89 (OMIM:619124)
Gene: GAD1
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89 (OMIM:619124)
Gene: GAD1
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89 (OMIM:619124)
Gene: GAD1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89 (OMIM:619124)
Gene: GAD1
Phenotype: Microretrognathia (HP:0000308)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89 (OMIM:619124)
Gene: GAD1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89 (OMIM:619124)
Gene: GAD1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89 (OMIM:619124)
Gene: GAD1
Phenotype: Anteverted nares (HP:0000463)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89 (OMIM:619124)
Gene: GAD1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89 (OMIM:619124)
Gene: GAD1
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89 (OMIM:619124)
Gene: GAD1
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 89 (OMIM:619124)
Gene: GALC
Phenotype: Hand clenching (HP:0001188)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: GALC
Phenotype: Abnormal corticospinal tract morphology (HP:0002492)
Associated disease: Adult Krabbe disease (ORPHA:206448)
Gene: GALC
Phenotype: Upper motor neuron dysfunction (HP:0002493)
Associated disease: Late-infantile/juvenile Krabbe disease; Krabbe disease, late-onset (ORPHA:206443)
Gene: GALC
Phenotype: Upper motor neuron dysfunction (HP:0002493)
Associated disease: Adult Krabbe disease (ORPHA:206448)
Gene: GALC
Phenotype: Tetraplegia (HP:0002445)
Associated disease: Late-infantile/juvenile Krabbe disease; Krabbe disease, late-onset (ORPHA:206443)
Gene: GALC
Phenotype: CNS demyelination (HP:0007305)
Associated disease: KRABBE DISEASE (OMIM:245200)
Gene: GALC
Phenotype: CNS demyelination (HP:0007305)
Associated disease: Adult Krabbe disease (ORPHA:206448)
Gene: GALC
Phenotype: Hyperesthesia (HP:0100963)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: GALC
Phenotype: Poor head control (HP:0002421)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: GALC
Phenotype: Abnormal midbrain morphology (HP:0002418)
Associated disease: Adult Krabbe disease (ORPHA:206448)
Gene: GALC
Phenotype: Encephalopathy (HP:0001298)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: GALC
Phenotype: Hypertonia (HP:0001276)
Associated disease: KRABBE DISEASE (OMIM:245200)
Gene: GALC
Phenotype: Abnormal corpus callosum morphology (HP:0001273)
Associated disease: Adult Krabbe disease (ORPHA:206448)
Gene: GALC
Phenotype: Motor delay (HP:0001270)
Associated disease: Late-infantile/juvenile Krabbe disease; Krabbe disease, late-onset (ORPHA:206443)
Gene: GALC
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Late-infantile/juvenile Krabbe disease; Krabbe disease, late-onset (ORPHA:206443)
Gene: GALC
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Adult Krabbe disease (ORPHA:206448)
Gene: GALC
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: GALC
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Late-infantile/juvenile Krabbe disease; Krabbe disease, late-onset (ORPHA:206443)
Gene: GALC
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Adult Krabbe disease (ORPHA:206448)
Gene: GALC
Phenotype: Seizure (HP:0001250)
Associated disease: Late-infantile/juvenile Krabbe disease; Krabbe disease, late-onset (ORPHA:206443)
Gene: GALC
Phenotype: Seizure (HP:0001250)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: GALC
Phenotype: Seizure (HP:0001250)
Associated disease: KRABBE DISEASE (OMIM:245200)
Gene: GALC
Phenotype: Hypotonia (HP:0001252)
Associated disease: KRABBE DISEASE (OMIM:245200)
Gene: GALC
Phenotype: Ataxia (HP:0001251)
Associated disease: Late-infantile/juvenile Krabbe disease; Krabbe disease, late-onset (ORPHA:206443)
Gene: GALC
Phenotype: Ataxia (HP:0001251)
Associated disease: Adult Krabbe disease (ORPHA:206448)
Gene: GALC
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: GALC
Phenotype: Spastic diplegia (HP:0001264)
Associated disease: Late-infantile/juvenile Krabbe disease; Krabbe disease, late-onset (ORPHA:206443)
Gene: GALC
Phenotype: Spastic diplegia (HP:0001264)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: GALC
Phenotype: Dysarthria (HP:0001260)
Associated disease: Late-infantile/juvenile Krabbe disease; Krabbe disease, late-onset (ORPHA:206443)
Gene: GALC
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: GALC
Phenotype: Spasticity (HP:0001257)
Associated disease: Adult Krabbe disease (ORPHA:206448)
Gene: GALC
Phenotype: Spasticity (HP:0001257)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: GALC
Phenotype: Abnormal pons morphology (HP:0007361)
Associated disease: Adult Krabbe disease (ORPHA:206448)
Gene: GALC
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Adult Krabbe disease (ORPHA:206448)
Gene: GALC
Phenotype: Abnormal periventricular white matter morphology (HP:0002518)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: GALC
Phenotype: Increased intracranial pressure (HP:0002516)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: GALC
Phenotype: Diffuse cerebral atrophy (HP:0002506)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: GALC
Phenotype: Diffuse cerebral atrophy (HP:0002506)
Associated disease: KRABBE DISEASE (OMIM:245200)
Gene: GALC
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: Late-infantile/juvenile Krabbe disease; Krabbe disease, late-onset (ORPHA:206443)
Gene: GALC
Phenotype: Acroparesthesia (HP:0031006)
Associated disease: Late-infantile/juvenile Krabbe disease; Krabbe disease, late-onset (ORPHA:206443)
Gene: GALC
Phenotype: Acroparesthesia (HP:0031006)
Associated disease: Adult Krabbe disease (ORPHA:206448)
Gene: GALC
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: Adult Krabbe disease (ORPHA:206448)
Gene: GALC
Phenotype: Slurred speech (HP:0001350)
Associated disease: Late-infantile/juvenile Krabbe disease; Krabbe disease, late-onset (ORPHA:206443)
Gene: GALC
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: GALC
Phenotype: Reduced brain glutamate level by MRS (HP:0031161)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: GALC
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: GALC
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: KRABBE DISEASE (OMIM:245200)
Gene: GALC
Phenotype: Tremor (HP:0001337)
Associated disease: Late-infantile/juvenile Krabbe disease; Krabbe disease, late-onset (ORPHA:206443)
Gene: GALC
Phenotype: Myoclonus (HP:0001336)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: GALC
Phenotype: Scoliosis (HP:0002650)
Associated disease: Adult Krabbe disease (ORPHA:206448)
Gene: GALC
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: KRABBE DISEASE (OMIM:245200)
Gene: GALC
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Late-infantile/juvenile Krabbe disease; Krabbe disease, late-onset (ORPHA:206443)
Gene: GALC
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: GALC
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: GALC
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: GALC
Phenotype: Vomiting (HP:0002013)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: GALC
Phenotype: Vomiting (HP:0002013)
Associated disease: KRABBE DISEASE (OMIM:245200)
Gene: GALC
Phenotype: Temperature instability (HP:0005968)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: GALC
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: GALC
Phenotype: Neuromuscular dysphagia (HP:0002068)
Associated disease: Late-infantile/juvenile Krabbe disease; Krabbe disease, late-onset (ORPHA:206443)
Gene: GALC
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: GALC
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: Late-infantile/juvenile Krabbe disease; Krabbe disease, late-onset (ORPHA:206443)
Gene: GALC
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: GALC
Phenotype: Abnormal pyramidal tract morphology (HP:0002062)
Associated disease: Adult Krabbe disease (ORPHA:206448)
Gene: GALC
Phenotype: Somatic sensory dysfunction (HP:0003474)
Associated disease: Adult Krabbe disease (ORPHA:206448)
Gene: GALC
Phenotype: Babinski sign (HP:0003487)
Associated disease: Adult Krabbe disease (ORPHA:206448)
Gene: GALC
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: Late-infantile/juvenile Krabbe disease; Krabbe disease, late-onset (ORPHA:206443)
Gene: GALC
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: Adult Krabbe disease (ORPHA:206448)
Gene: GALC
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: GALC
Phenotype: Broad-based gait (HP:0002136)
Associated disease: Adult Krabbe disease (ORPHA:206448)
Gene: GALC
Phenotype: Neurodegeneration (HP:0002180)
Associated disease: KRABBE DISEASE (OMIM:245200)
Gene: GALC
Phenotype: Progressive spasticity (HP:0002191)
Associated disease: KRABBE DISEASE (OMIM:245200)
Gene: GALC
Phenotype: Opisthotonus (HP:0002179)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: GALC
Phenotype: Infantile onset (HP:0003593)
Associated disease: KRABBE DISEASE (OMIM:245200)
Gene: GALC
Phenotype: Tetraparesis (HP:0002273)
Associated disease: Adult Krabbe disease (ORPHA:206448)
Gene: GALC
Phenotype: Muscle stiffness (HP:0003552)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: GALC
Phenotype: Shoulder girdle muscle weakness (HP:0003547)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: GALC
Phenotype: Cherry red spot of the macula (HP:0010729)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: GALC
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Late-infantile/juvenile Krabbe disease; Krabbe disease, late-onset (ORPHA:206443)
Gene: GALC
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Late-infantile/juvenile Krabbe disease; Krabbe disease, late-onset (ORPHA:206443)
Gene: GALC
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: GALC
Phenotype: Hypopigmented skin patches (HP:0001053)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: GALC
Phenotype: Decerebrate rigidity (HP:0025013)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: GALC
Phenotype: Decerebrate rigidity (HP:0025013)
Associated disease: KRABBE DISEASE (OMIM:245200)
Gene: GALC
Phenotype: Psychomotor deterioration (HP:0002361)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: GALC
Phenotype: Frequent falls (HP:0002359)
Associated disease: Late-infantile/juvenile Krabbe disease; Krabbe disease, late-onset (ORPHA:206443)
Gene: GALC
Phenotype: Frequent falls (HP:0002359)
Associated disease: Adult Krabbe disease (ORPHA:206448)
Gene: GALC
Phenotype: Developmental regression (HP:0002376)
Associated disease: KRABBE DISEASE (OMIM:245200)
Gene: GALC
Phenotype: Developmental regression (HP:0002376)
Associated disease: Late-infantile/juvenile Krabbe disease; Krabbe disease, late-onset (ORPHA:206443)
Gene: GALC
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: Late-infantile/juvenile Krabbe disease; Krabbe disease, late-onset (ORPHA:206443)
Gene: GALC
Phenotype: Loss of speech (HP:0002371)
Associated disease: Late-infantile/juvenile Krabbe disease; Krabbe disease, late-onset (ORPHA:206443)
Gene: GALC
Phenotype: Loss of speech (HP:0002371)
Associated disease: Adult Krabbe disease (ORPHA:206448)
Gene: GALC
Phenotype: Progressive neurologic deterioration (HP:0002344)
Associated disease: Adult Krabbe disease (ORPHA:206448)
Gene: GALC
Phenotype: Progressive neurologic deterioration (HP:0002344)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: GALC
Phenotype: EEG abnormality (HP:0002353)
Associated disease: KRABBE DISEASE (OMIM:245200)
Gene: GALC
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Adult Krabbe disease (ORPHA:206448)
Gene: GALC
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: Late-infantile/juvenile Krabbe disease; Krabbe disease, late-onset (ORPHA:206443)
Gene: GALC
Phenotype: Motor deterioration (HP:0002333)
Associated disease: KRABBE DISEASE (OMIM:245200)
Gene: GALC
Phenotype: EEG with persistent abnormal rhythmic activity (HP:0010846)
Associated disease: Late-infantile/juvenile Krabbe disease; Krabbe disease, late-onset (ORPHA:206443)
Gene: GALC
Phenotype: Impaired tactile sensation (HP:0010830)
Associated disease: Late-infantile/juvenile Krabbe disease; Krabbe disease, late-onset (ORPHA:206443)
Gene: GALC
Phenotype: Impaired tactile sensation (HP:0010830)
Associated disease: Adult Krabbe disease (ORPHA:206448)
Gene: GALC
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Late-infantile/juvenile Krabbe disease; Krabbe disease, late-onset (ORPHA:206443)
Gene: GALC
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Adult Krabbe disease (ORPHA:206448)
Gene: GALC
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: GALC
Phenotype: Erectile dysfunction (HP:0100639)
Associated disease: Adult Krabbe disease (ORPHA:206448)
Gene: GALC
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: Late-infantile/juvenile Krabbe disease; Krabbe disease, late-onset (ORPHA:206443)
Gene: GALC
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: Adult Krabbe disease (ORPHA:206448)
Gene: GALC
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: GALC
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: KRABBE DISEASE (OMIM:245200)
Gene: GALC
Phenotype: Hypointensity of cerebral white matter on MRI (HP:0007103)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: GALC
Phenotype: Hemiplegia (HP:0002301)
Associated disease: Late-infantile/juvenile Krabbe disease; Krabbe disease, late-onset (ORPHA:206443)
Gene: GALC
Phenotype: Hemiplegia (HP:0002301)
Associated disease: Adult Krabbe disease (ORPHA:206448)
Gene: GALC
Phenotype: Clumsiness (HP:0002312)
Associated disease: Late-infantile/juvenile Krabbe disease; Krabbe disease, late-onset (ORPHA:206443)
Gene: GALC
Phenotype: Clumsiness (HP:0002312)
Associated disease: Adult Krabbe disease (ORPHA:206448)
Gene: GALC
Phenotype: Progressive spastic paraparesis (HP:0007199)
Associated disease: Adult Krabbe disease (ORPHA:206448)
Gene: GALC
Phenotype: Abnormal heart rate variability (HP:0031860)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: GALC
Phenotype: Hyperactive deep tendon reflexes (HP:0006801)
Associated disease: KRABBE DISEASE (OMIM:245200)
Gene: GALC
Phenotype: Hyperactive deep tendon reflexes (HP:0006801)
Associated disease: Adult Krabbe disease (ORPHA:206448)
Gene: GALC
Phenotype: Nystagmus (HP:0000639)
Associated disease: KRABBE DISEASE (OMIM:245200)
Gene: GALC
Phenotype: Abnormality of visual evoked potentials (HP:0000649)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: GALC
Phenotype: Abnormality of visual evoked potentials (HP:0000649)
Associated disease: Late-infantile/juvenile Krabbe disease; Krabbe disease, late-onset (ORPHA:206443)
Gene: GALC
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: GALC
Phenotype: Optic atrophy (HP:0000648)
Associated disease: KRABBE DISEASE (OMIM:245200)
Gene: GALC
Phenotype: Autoimmune thrombocytopenia (HP:0001973)
Associated disease: KRABBE DISEASE (OMIM:245200)
Gene: GALC
Phenotype: Blindness (HP:0000618)
Associated disease: Late-infantile/juvenile Krabbe disease; Krabbe disease, late-onset (ORPHA:206443)
Gene: GALC
Phenotype: Blindness (HP:0000618)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: GALC
Phenotype: Blindness (HP:0000618)
Associated disease: KRABBE DISEASE (OMIM:245200)
Gene: GALC
Phenotype: Photophobia (HP:0000613)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: GALC
Phenotype: Unexplained fevers (HP:0001955)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: GALC
Phenotype: Recurrent fever (HP:0001954)
Associated disease: KRABBE DISEASE (OMIM:245200)
Gene: GALC
Phenotype: Cachexia (HP:0004326)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: GALC
Phenotype: Functional motor deficit (HP:0004302)
Associated disease: Late-infantile/juvenile Krabbe disease; Krabbe disease, late-onset (ORPHA:206443)
Gene: GALC
Phenotype: Functional motor deficit (HP:0004302)
Associated disease: Adult Krabbe disease (ORPHA:206448)
Gene: GALC
Phenotype: Functional motor deficit (HP:0004302)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: GALC
Phenotype: Hoffmann sign (HP:0031993)
Associated disease: Adult Krabbe disease (ORPHA:206448)
Gene: GALC
Phenotype: Abnormal CNS myelination (HP:0011400)
Associated disease: Late-infantile/juvenile Krabbe disease; Krabbe disease, late-onset (ORPHA:206443)
Gene: GALC
Phenotype: Decreased nerve conduction velocity (HP:0000762)
Associated disease: Late-infantile/juvenile Krabbe disease; Krabbe disease, late-onset (ORPHA:206443)
Gene: GALC
Phenotype: Decreased nerve conduction velocity (HP:0000762)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: GALC
Phenotype: Decreased nerve conduction velocity (HP:0000762)
Associated disease: KRABBE DISEASE (OMIM:245200)
Gene: GALC
Phenotype: Irritability (HP:0000737)
Associated disease: Late-infantile/juvenile Krabbe disease; Krabbe disease, late-onset (ORPHA:206443)
Gene: GALC
Phenotype: Irritability (HP:0000737)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: GALC
Phenotype: Elevated brain choline level by MRS (HP:0012706)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: GALC
Phenotype: Reduced brain N-acetyl aspartate level by MRS (HP:0012708)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: GALC
Phenotype: Emotional lability (HP:0000712)
Associated disease: Late-infantile/juvenile Krabbe disease; Krabbe disease, late-onset (ORPHA:206443)
Gene: GALC
Phenotype: Dementia (HP:0000726)
Associated disease: Adult Krabbe disease (ORPHA:206448)
Gene: GALC
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Late-infantile/juvenile Krabbe disease; Krabbe disease, late-onset (ORPHA:206443)
Gene: GALC
Phenotype: Nasogastric tube feeding in infancy (HP:0011470)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: GALC
Phenotype: Childhood onset (HP:0011463)
Associated disease: KRABBE DISEASE (OMIM:245200)
Gene: GALC
Phenotype: Young adult onset (HP:0011462)
Associated disease: KRABBE DISEASE (OMIM:245200)
Gene: GALC
Phenotype: Decorticate rigidity (HP:0011444)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: GALC
Phenotype: Ankle clonus (HP:0011448)
Associated disease: Krabbe disease, early-onset; Infantile Krabbe disease; Krabbe disease, classic form (ORPHA:206436)
Gene: GALC
Phenotype: Abnormal medulla oblongata morphology (HP:0011441)
Associated disease: Adult Krabbe disease (ORPHA:206448)
Gene: GALC
Phenotype: Delayed brainstem auditory evoked response conduction time (HP:0004466)
Associated disease: Late-infantile/juvenile Krabbe disease; Krabbe disease, late-onset (ORPHA:206443)