TaoMedAI/RareMedData huggingface dataset:
Gene: HELLS
Phenotype: Hypertelorism (HP:0000316)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4 (OMIM:616911)
Gene: HELLS
Phenotype: Hypertelorism (HP:0000316)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: HELLS
Phenotype: Cellular immunodeficiency (HP:0005374)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: HELLS
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: HELLS
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4 (OMIM:616911)
Gene: HELLS
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: HELLS
Phenotype: Abnormality of neutrophils (HP:0001874)
Associated disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Gene: NCKAP1L
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION (OMIM:618982)
Gene: NCKAP1L
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION (OMIM:618982)
Gene: NCKAP1L
Phenotype: Recurrent infections (HP:0002719)
Associated disease: IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION (OMIM:618982)
Gene: NCKAP1L
Phenotype: Lymphadenopathy (HP:0002716)
Associated disease: IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION (OMIM:618982)
Gene: NCKAP1L
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION (OMIM:618982)
Gene: NCKAP1L
Phenotype: Infantile onset (HP:0003593)
Associated disease: IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION (OMIM:618982)
Gene: NCKAP1L
Phenotype: Clubbing of fingers (HP:0100759)
Associated disease: IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION (OMIM:618982)
Gene: NCKAP1L
Phenotype: Molluscum contagiosum (HP:0032163)
Associated disease: IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION (OMIM:618982)
Gene: NCKAP1L
Phenotype: Increased memory T cell proportion (HP:0032184)
Associated disease: IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION (OMIM:618982)
Gene: NCKAP1L
Phenotype: Increased circulating IgG concentration (HP:0003237)
Associated disease: IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION (OMIM:618982)
Gene: NCKAP1L
Phenotype: Increased circulating IgE concentration (HP:0003212)
Associated disease: IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION (OMIM:618982)
Gene: NCKAP1L
Phenotype: Herpes simplex encephalitis (HP:0012302)
Associated disease: IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION (OMIM:618982)
Gene: NCKAP1L
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION (OMIM:618982)
Gene: NCKAP1L
Phenotype: Increased total B cell count (HP:0005404)
Associated disease: IMMUNODEFICIENCY 72 WITH AUTOINFLAMMATION (OMIM:618982)
Gene: HEXA
Phenotype: Poor head control (HP:0002421)
Associated disease: TAY-SACHS DISEASE (OMIM:272800)
Gene: HEXA
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: TAY-SACHS DISEASE (OMIM:272800)
Gene: HEXA
Phenotype: Hypertonia (HP:0001276)
Associated disease: TAY-SACHS DISEASE (OMIM:272800)
Gene: HEXA
Phenotype: Seizure (HP:0001250)
Associated disease: TAY-SACHS DISEASE (OMIM:272800)
Gene: HEXA
Phenotype: Hypotonia (HP:0001252)
Associated disease: TAY-SACHS DISEASE (OMIM:272800)
Gene: HEXA
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: TAY-SACHS DISEASE (OMIM:272800)
Gene: HEXA
Phenotype: GM2-ganglioside accumulation (HP:0003495)
Associated disease: TAY-SACHS DISEASE (OMIM:272800)
Gene: HEXA
Phenotype: Exaggerated startle response (HP:0002267)
Associated disease: TAY-SACHS DISEASE (OMIM:272800)
Gene: HEXA
Phenotype: Infantile onset (HP:0003593)
Associated disease: TAY-SACHS DISEASE (OMIM:272800)
Gene: HEXA
Phenotype: Cherry red spot of the macula (HP:0010729)
Associated disease: TAY-SACHS DISEASE (OMIM:272800)
Gene: HEXA
Phenotype: Psychomotor deterioration (HP:0002361)
Associated disease: TAY-SACHS DISEASE (OMIM:272800)
Gene: HEXA
Phenotype: Blindness (HP:0000618)
Associated disease: TAY-SACHS DISEASE (OMIM:272800)
Gene: HEXA
Phenotype: Apathy (HP:0000741)
Associated disease: TAY-SACHS DISEASE (OMIM:272800)
Gene: HEXA
Phenotype: Dementia (HP:0000726)
Associated disease: TAY-SACHS DISEASE (OMIM:272800)
Gene: HEXA
Phenotype: Pallor (HP:0000980)
Associated disease: TAY-SACHS DISEASE (OMIM:272800)
Gene: HEXA
Phenotype: Aspiration (HP:0002835)
Associated disease: TAY-SACHS DISEASE (OMIM:272800)
Gene: HEXB
Phenotype: Upper motor neuron dysfunction (HP:0002493)
Associated disease: SANDHOFF DISEASE (OMIM:268800)
Gene: HEXB
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: GM2 gangliosidosis, hexosaminidase A and B deficiency variant, juvenile form; GM2 gangliosidosis, Sandhoff variant, juvenile form; Sandhoff disease, juvenile form; Beta-hexosaminidase subunit beta deficiency, juvenile form (ORPHA:309162)
Gene: HEXB
Phenotype: Progressive psychomotor deterioration (HP:0007272)
Associated disease: SANDHOFF DISEASE (OMIM:268800)
Gene: HEXB
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: GM2 gangliosidosis, hexosaminidase A and B deficiency variant, juvenile form; GM2 gangliosidosis, Sandhoff variant, juvenile form; Sandhoff disease, juvenile form; Beta-hexosaminidase subunit beta deficiency, juvenile form (ORPHA:309162)
Gene: HEXB
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: GM2 gangliosidosis, hexosaminidase A and B deficiency variant, juvenile form; GM2 gangliosidosis, Sandhoff variant, juvenile form; Sandhoff disease, juvenile form; Beta-hexosaminidase subunit beta deficiency, juvenile form (ORPHA:309162)
Gene: HEXB
Phenotype: Stuttering (HP:0025268)
Associated disease: Beta-hexosaminidase subunit beta deficiency, adult form; GM2 gangliosidosis, Sandhoff variant, adult form; Sandhoff disease, adult form; GM2 gangliosidosis, hexosaminidase A and B deficiency variant, adult form (ORPHA:309169)
Gene: HEXB
Phenotype: Blue nevus (HP:0100814)
Associated disease: GM2 gangliosidosis, hexosaminidase A and B deficiency variant, infantile form; Sandhoff disease, infantile form; GM2 gangliosidosis, Sandhoff variant, infantile form; Beta-hexosaminidase subunit beta deficiency, infantile form (ORPHA:309155)
Gene: HEXB
Phenotype: Orthostatic hypotension (HP:0001278)
Associated disease: SANDHOFF DISEASE (OMIM:268800)
Gene: HEXB
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: GM2 gangliosidosis, hexosaminidase A and B deficiency variant, juvenile form; GM2 gangliosidosis, Sandhoff variant, juvenile form; Sandhoff disease, juvenile form; Beta-hexosaminidase subunit beta deficiency, juvenile form (ORPHA:309162)
Gene: HEXB
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Beta-hexosaminidase subunit beta deficiency, adult form; GM2 gangliosidosis, Sandhoff variant, adult form; Sandhoff disease, adult form; GM2 gangliosidosis, hexosaminidase A and B deficiency variant, adult form (ORPHA:309169)
Gene: HEXB
Phenotype: Gait disturbance (HP:0001288)
Associated disease: GM2 gangliosidosis, hexosaminidase A and B deficiency variant, juvenile form; GM2 gangliosidosis, Sandhoff variant, juvenile form; Sandhoff disease, juvenile form; Beta-hexosaminidase subunit beta deficiency, juvenile form (ORPHA:309162)
Gene: HEXB
Phenotype: Seizure (HP:0001250)
Associated disease: GM2 gangliosidosis, hexosaminidase A and B deficiency variant, juvenile form; GM2 gangliosidosis, Sandhoff variant, juvenile form; Sandhoff disease, juvenile form; Beta-hexosaminidase subunit beta deficiency, juvenile form (ORPHA:309162)
Gene: HEXB
Phenotype: Seizure (HP:0001250)
Associated disease: GM2 gangliosidosis, hexosaminidase A and B deficiency variant, infantile form; Sandhoff disease, infantile form; GM2 gangliosidosis, Sandhoff variant, infantile form; Beta-hexosaminidase subunit beta deficiency, infantile form (ORPHA:309155)
Gene: HEXB
Phenotype: Hypotonia (HP:0001252)
Associated disease: SANDHOFF DISEASE (OMIM:268800)
Gene: HEXB
Phenotype: Ataxia (HP:0001251)
Associated disease: SANDHOFF DISEASE (OMIM:268800)
Gene: HEXB
Phenotype: Ataxia (HP:0001251)
Associated disease: GM2 gangliosidosis, hexosaminidase A and B deficiency variant, juvenile form; GM2 gangliosidosis, Sandhoff variant, juvenile form; Sandhoff disease, juvenile form; Beta-hexosaminidase subunit beta deficiency, juvenile form (ORPHA:309162)
Gene: HEXB
Phenotype: Dysarthria (HP:0001260)
Associated disease: GM2 gangliosidosis, hexosaminidase A and B deficiency variant, juvenile form; GM2 gangliosidosis, Sandhoff variant, juvenile form; Sandhoff disease, juvenile form; Beta-hexosaminidase subunit beta deficiency, juvenile form (ORPHA:309162)
Gene: HEXB
Phenotype: Dysarthria (HP:0001260)
Associated disease: Beta-hexosaminidase subunit beta deficiency, adult form; GM2 gangliosidosis, Sandhoff variant, adult form; Sandhoff disease, adult form; GM2 gangliosidosis, hexosaminidase A and B deficiency variant, adult form (ORPHA:309169)
Gene: HEXB
Phenotype: Dysarthria (HP:0001260)
Associated disease: SANDHOFF DISEASE (OMIM:268800)
Gene: HEXB
Phenotype: Spasticity (HP:0001257)
Associated disease: Beta-hexosaminidase subunit beta deficiency, adult form; GM2 gangliosidosis, Sandhoff variant, adult form; Sandhoff disease, adult form; GM2 gangliosidosis, hexosaminidase A and B deficiency variant, adult form (ORPHA:309169)
Gene: HEXB
Phenotype: Spasticity (HP:0001257)
Associated disease: GM2 gangliosidosis, hexosaminidase A and B deficiency variant, infantile form; Sandhoff disease, infantile form; GM2 gangliosidosis, Sandhoff variant, infantile form; Beta-hexosaminidase subunit beta deficiency, infantile form (ORPHA:309155)
Gene: HEXB
Phenotype: Spasticity (HP:0001257)
Associated disease: SANDHOFF DISEASE (OMIM:268800)
Gene: HEXB
Phenotype: Episodic abdominal pain (HP:0002574)
Associated disease: SANDHOFF DISEASE (OMIM:268800)
Gene: HEXB
Phenotype: Acroparesthesia (HP:0031006)
Associated disease: GM2 gangliosidosis, hexosaminidase A and B deficiency variant, juvenile form; GM2 gangliosidosis, Sandhoff variant, juvenile form; Sandhoff disease, juvenile form; Beta-hexosaminidase subunit beta deficiency, juvenile form (ORPHA:309162)
Gene: HEXB
Phenotype: Death in childhood (HP:0003819)
Associated disease: SANDHOFF DISEASE (OMIM:268800)
Gene: HEXB
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: GM2 gangliosidosis, hexosaminidase A and B deficiency variant, juvenile form; GM2 gangliosidosis, Sandhoff variant, juvenile form; Sandhoff disease, juvenile form; Beta-hexosaminidase subunit beta deficiency, juvenile form (ORPHA:309162)
Gene: HEXB
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: SANDHOFF DISEASE (OMIM:268800)
Gene: HEXB
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: GM2 gangliosidosis, hexosaminidase A and B deficiency variant, infantile form; Sandhoff disease, infantile form; GM2 gangliosidosis, Sandhoff variant, infantile form; Beta-hexosaminidase subunit beta deficiency, infantile form (ORPHA:309155)
Gene: HEXB
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SANDHOFF DISEASE (OMIM:268800)
Gene: HEXB
Phenotype: Dystonia (HP:0001332)
Associated disease: Beta-hexosaminidase subunit beta deficiency, adult form; GM2 gangliosidosis, Sandhoff variant, adult form; Sandhoff disease, adult form; GM2 gangliosidosis, hexosaminidase A and B deficiency variant, adult form (ORPHA:309169)
Gene: HEXB
Phenotype: Muscle weakness (HP:0001324)
Associated disease: SANDHOFF DISEASE (OMIM:268800)
Gene: HEXB
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SANDHOFF DISEASE (OMIM:268800)
Gene: HEXB
Phenotype: Tremor (HP:0001337)
Associated disease: Beta-hexosaminidase subunit beta deficiency, adult form; GM2 gangliosidosis, Sandhoff variant, adult form; Sandhoff disease, adult form; GM2 gangliosidosis, hexosaminidase A and B deficiency variant, adult form (ORPHA:309169)
Gene: HEXB
Phenotype: Myoclonus (HP:0001336)
Associated disease: GM2 gangliosidosis, hexosaminidase A and B deficiency variant, infantile form; Sandhoff disease, infantile form; GM2 gangliosidosis, Sandhoff variant, infantile form; Beta-hexosaminidase subunit beta deficiency, infantile form (ORPHA:309155)
Gene: HEXB
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Beta-hexosaminidase subunit beta deficiency, adult form; GM2 gangliosidosis, Sandhoff variant, adult form; Sandhoff disease, adult form; GM2 gangliosidosis, hexosaminidase A and B deficiency variant, adult form (ORPHA:309169)
Gene: HEXB
Phenotype: Macroglossia (HP:0000158)
Associated disease: SANDHOFF DISEASE (OMIM:268800)
Gene: HEXB
Phenotype: Proximal muscle weakness in lower limbs (HP:0008994)
Associated disease: Beta-hexosaminidase subunit beta deficiency, adult form; GM2 gangliosidosis, Sandhoff variant, adult form; Sandhoff disease, adult form; GM2 gangliosidosis, hexosaminidase A and B deficiency variant, adult form (ORPHA:309169)
Gene: HEXB
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: GM2 gangliosidosis, hexosaminidase A and B deficiency variant, infantile form; Sandhoff disease, infantile form; GM2 gangliosidosis, Sandhoff variant, infantile form; Beta-hexosaminidase subunit beta deficiency, infantile form (ORPHA:309155)
Gene: HEXB
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: SANDHOFF DISEASE (OMIM:268800)
Gene: HEXB
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: GM2 gangliosidosis, hexosaminidase A and B deficiency variant, infantile form; Sandhoff disease, infantile form; GM2 gangliosidosis, Sandhoff variant, infantile form; Beta-hexosaminidase subunit beta deficiency, infantile form (ORPHA:309155)
Gene: HEXB
Phenotype: Constipation (HP:0002019)
Associated disease: GM2 gangliosidosis, hexosaminidase A and B deficiency variant, juvenile form; GM2 gangliosidosis, Sandhoff variant, juvenile form; Sandhoff disease, juvenile form; Beta-hexosaminidase subunit beta deficiency, juvenile form (ORPHA:309162)
Gene: HEXB
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: SANDHOFF DISEASE (OMIM:268800)
Gene: HEXB
Phenotype: Diarrhea (HP:0002014)
Associated disease: GM2 gangliosidosis, hexosaminidase A and B deficiency variant, juvenile form; GM2 gangliosidosis, Sandhoff variant, juvenile form; Sandhoff disease, juvenile form; Beta-hexosaminidase subunit beta deficiency, juvenile form (ORPHA:309162)
Gene: HEXB
Phenotype: Dysphagia (HP:0002015)
Associated disease: GM2 gangliosidosis, hexosaminidase A and B deficiency variant, juvenile form; GM2 gangliosidosis, Sandhoff variant, juvenile form; Sandhoff disease, juvenile form; Beta-hexosaminidase subunit beta deficiency, juvenile form (ORPHA:309162)
Gene: HEXB
Phenotype: Dysphagia (HP:0002015)
Associated disease: Beta-hexosaminidase subunit beta deficiency, adult form; GM2 gangliosidosis, Sandhoff variant, adult form; Sandhoff disease, adult form; GM2 gangliosidosis, hexosaminidase A and B deficiency variant, adult form (ORPHA:309169)
Gene: HEXB
Phenotype: Increased urinary N-acetylglucosamine-rich oligosaccharide level (HP:6000122)
Associated disease: SANDHOFF DISEASE (OMIM:268800)
Gene: HEXB
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: GM2 gangliosidosis, hexosaminidase A and B deficiency variant, juvenile form; GM2 gangliosidosis, Sandhoff variant, juvenile form; Sandhoff disease, juvenile form; Beta-hexosaminidase subunit beta deficiency, juvenile form (ORPHA:309162)
Gene: HEXB
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: GM2 gangliosidosis, hexosaminidase A and B deficiency variant, infantile form; Sandhoff disease, infantile form; GM2 gangliosidosis, Sandhoff variant, infantile form; Beta-hexosaminidase subunit beta deficiency, infantile form (ORPHA:309155)
Gene: HEXB
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: SANDHOFF DISEASE (OMIM:268800)
Gene: HEXB
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Beta-hexosaminidase subunit beta deficiency, adult form; GM2 gangliosidosis, Sandhoff variant, adult form; Sandhoff disease, adult form; GM2 gangliosidosis, hexosaminidase A and B deficiency variant, adult form (ORPHA:309169)
Gene: HEXB
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Beta-hexosaminidase subunit beta deficiency, adult form; GM2 gangliosidosis, Sandhoff variant, adult form; Sandhoff disease, adult form; GM2 gangliosidosis, hexosaminidase A and B deficiency variant, adult form (ORPHA:309169)
Gene: HEXB
Phenotype: Sensory axonal neuropathy (HP:0003390)
Associated disease: Beta-hexosaminidase subunit beta deficiency, adult form; GM2 gangliosidosis, Sandhoff variant, adult form; Sandhoff disease, adult form; GM2 gangliosidosis, hexosaminidase A and B deficiency variant, adult form (ORPHA:309169)
Gene: HEXB
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: GM2 gangliosidosis, hexosaminidase A and B deficiency variant, juvenile form; GM2 gangliosidosis, Sandhoff variant, juvenile form; Sandhoff disease, juvenile form; Beta-hexosaminidase subunit beta deficiency, juvenile form (ORPHA:309162)
Gene: HEXB
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: GM2 gangliosidosis, hexosaminidase A and B deficiency variant, juvenile form; GM2 gangliosidosis, Sandhoff variant, juvenile form; Sandhoff disease, juvenile form; Beta-hexosaminidase subunit beta deficiency, juvenile form (ORPHA:309162)
Gene: HEXB
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: Beta-hexosaminidase subunit beta deficiency, adult form; GM2 gangliosidosis, Sandhoff variant, adult form; Sandhoff disease, adult form; GM2 gangliosidosis, hexosaminidase A and B deficiency variant, adult form (ORPHA:309169)
Gene: HEXB
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: GM2 gangliosidosis, hexosaminidase A and B deficiency variant, infantile form; Sandhoff disease, infantile form; GM2 gangliosidosis, Sandhoff variant, infantile form; Beta-hexosaminidase subunit beta deficiency, infantile form (ORPHA:309155)
Gene: HEXB
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: SANDHOFF DISEASE (OMIM:268800)
Gene: HEXB
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: GM2 gangliosidosis, hexosaminidase A and B deficiency variant, infantile form; Sandhoff disease, infantile form; GM2 gangliosidosis, Sandhoff variant, infantile form; Beta-hexosaminidase subunit beta deficiency, infantile form (ORPHA:309155)
Gene: HEXB
Phenotype: Exaggerated startle response (HP:0002267)
Associated disease: GM2 gangliosidosis, hexosaminidase A and B deficiency variant, infantile form; Sandhoff disease, infantile form; GM2 gangliosidosis, Sandhoff variant, infantile form; Beta-hexosaminidase subunit beta deficiency, infantile form (ORPHA:309155)
Gene: HEXB
Phenotype: Exaggerated startle response (HP:0002267)
Associated disease: SANDHOFF DISEASE (OMIM:268800)
Gene: HEXB
Phenotype: Infantile onset (HP:0003593)
Associated disease: SANDHOFF DISEASE (OMIM:268800)
Gene: HEXB
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: SANDHOFF DISEASE (OMIM:268800)
Gene: HEXB
Phenotype: Cherry red spot of the macula (HP:0010729)
Associated disease: GM2 gangliosidosis, hexosaminidase A and B deficiency variant, infantile form; Sandhoff disease, infantile form; GM2 gangliosidosis, Sandhoff variant, infantile form; Beta-hexosaminidase subunit beta deficiency, infantile form (ORPHA:309155)
Gene: HEXB
Phenotype: Cherry red spot of the macula (HP:0010729)
Associated disease: SANDHOFF DISEASE (OMIM:268800)
Gene: HEXB
Phenotype: Insomnia (HP:0100785)
Associated disease: GM2 gangliosidosis, hexosaminidase A and B deficiency variant, juvenile form; GM2 gangliosidosis, Sandhoff variant, juvenile form; Sandhoff disease, juvenile form; Beta-hexosaminidase subunit beta deficiency, juvenile form (ORPHA:309162)
Gene: HEXB
Phenotype: Hypersomnia (HP:0100786)
Associated disease: GM2 gangliosidosis, hexosaminidase A and B deficiency variant, juvenile form; GM2 gangliosidosis, Sandhoff variant, juvenile form; Sandhoff disease, juvenile form; Beta-hexosaminidase subunit beta deficiency, juvenile form (ORPHA:309162)
Gene: HEXB
Phenotype: Hyperactive patellar reflex (HP:0007083)
Associated disease: GM2 gangliosidosis, hexosaminidase A and B deficiency variant, infantile form; Sandhoff disease, infantile form; GM2 gangliosidosis, Sandhoff variant, infantile form; Beta-hexosaminidase subunit beta deficiency, infantile form (ORPHA:309155)
Gene: HEXB
Phenotype: Fasciculations (HP:0002380)
Associated disease: GM2 gangliosidosis, hexosaminidase A and B deficiency variant, juvenile form; GM2 gangliosidosis, Sandhoff variant, juvenile form; Sandhoff disease, juvenile form; Beta-hexosaminidase subunit beta deficiency, juvenile form (ORPHA:309162)
Gene: HEXB
Phenotype: Fasciculations (HP:0002380)
Associated disease: Beta-hexosaminidase subunit beta deficiency, adult form; GM2 gangliosidosis, Sandhoff variant, adult form; Sandhoff disease, adult form; GM2 gangliosidosis, hexosaminidase A and B deficiency variant, adult form (ORPHA:309169)
Gene: HEXB
Phenotype: Fasciculations (HP:0002380)
Associated disease: SANDHOFF DISEASE (OMIM:268800)
Gene: HEXB
Phenotype: Developmental regression (HP:0002376)
Associated disease: GM2 gangliosidosis, hexosaminidase A and B deficiency variant, infantile form; Sandhoff disease, infantile form; GM2 gangliosidosis, Sandhoff variant, infantile form; Beta-hexosaminidase subunit beta deficiency, infantile form (ORPHA:309155)
Gene: HEXB
Phenotype: Developmental regression (HP:0002376)
Associated disease: SANDHOFF DISEASE (OMIM:268800)
Gene: HEXB
Phenotype: Impaired temperature sensation (HP:0010829)
Associated disease: SANDHOFF DISEASE (OMIM:268800)
Gene: HEXB
Phenotype: Hyperacusis (HP:0010780)
Associated disease: GM2 gangliosidosis, hexosaminidase A and B deficiency variant, infantile form; Sandhoff disease, infantile form; GM2 gangliosidosis, Sandhoff variant, infantile form; Beta-hexosaminidase subunit beta deficiency, infantile form (ORPHA:309155)
Gene: HEXB
Phenotype: Incoordination (HP:0002311)
Associated disease: GM2 gangliosidosis, hexosaminidase A and B deficiency variant, juvenile form; GM2 gangliosidosis, Sandhoff variant, juvenile form; Sandhoff disease, juvenile form; Beta-hexosaminidase subunit beta deficiency, juvenile form (ORPHA:309162)
Gene: HEXB
Phenotype: Blindness (HP:0000618)
Associated disease: SANDHOFF DISEASE (OMIM:268800)
Gene: HEXB
Phenotype: Abnormal thalamic MRI signal intensity (HP:0012696)
Associated disease: GM2 gangliosidosis, hexosaminidase A and B deficiency variant, infantile form; Sandhoff disease, infantile form; GM2 gangliosidosis, Sandhoff variant, infantile form; Beta-hexosaminidase subunit beta deficiency, infantile form (ORPHA:309155)
Gene: HEXB
Phenotype: Impotence (HP:0000802)
Associated disease: SANDHOFF DISEASE (OMIM:268800)
Gene: HEXB
Phenotype: Focal dystonia (HP:0004373)
Associated disease: Beta-hexosaminidase subunit beta deficiency, adult form; GM2 gangliosidosis, Sandhoff variant, adult form; Sandhoff disease, adult form; GM2 gangliosidosis, hexosaminidase A and B deficiency variant, adult form (ORPHA:309169)
Gene: HEXB
Phenotype: Abnormal glycosphingolipid metabolism (HP:0004343)
Associated disease: SANDHOFF DISEASE (OMIM:268800)
Gene: HEXB
Phenotype: Anxiety (HP:0000739)
Associated disease: Beta-hexosaminidase subunit beta deficiency, adult form; GM2 gangliosidosis, Sandhoff variant, adult form; Sandhoff disease, adult form; GM2 gangliosidosis, hexosaminidase A and B deficiency variant, adult form (ORPHA:309169)