TaoMedAI/RareMedData huggingface dataset:
Gene: CAMK2B
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 (OMIM:617799)
Gene: CAMK2B
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 (OMIM:617799)
Gene: CAMK2B
Phenotype: Midface retrusion (HP:0011800)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 (OMIM:617799)
Gene: CAMK2B
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 (OMIM:617799)
Gene: CAMK2B
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 (OMIM:617799)
Gene: CAMK2B
Phenotype: Apnea (HP:0002104)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 (OMIM:617799)
Gene: CAMK2B
Phenotype: Infantile onset (HP:0003593)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 (OMIM:617799)
Gene: CAMK2B
Phenotype: Congenital onset (HP:0003577)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 (OMIM:617799)
Gene: CAMK2B
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 (OMIM:617799)
Gene: CAMK2B
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 (OMIM:617799)
Gene: CAMK2B
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 (OMIM:617799)
Gene: CAMK2B
Phenotype: Developmental regression (HP:0002376)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 (OMIM:617799)
Gene: CAMK2B
Phenotype: Dyskinesia (HP:0100660)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 (OMIM:617799)
Gene: CAMK2B
Phenotype: Atonic seizure (HP:0010819)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 (OMIM:617799)
Gene: CAMK2B
Phenotype: Nystagmus (HP:0000639)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 (OMIM:617799)
Gene: CAMK2B
Phenotype: Delayed eruption of primary teeth (HP:0000680)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 (OMIM:617799)
Gene: CAMK2B
Phenotype: Dental crowding (HP:0000678)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 (OMIM:617799)
Gene: CAMK2B
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 (OMIM:617799)
Gene: CAMK2B
Phenotype: Short stature (HP:0004322)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 (OMIM:617799)
Gene: CAMK2B
Phenotype: Poor appetite (HP:0004396)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 (OMIM:617799)
Gene: CAMK2B
Phenotype: Irritability (HP:0000737)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 (OMIM:617799)
Gene: CAMK2B
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 (OMIM:617799)
Gene: CAMK2B
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 (OMIM:617799)
Gene: CAMK2B
Phenotype: Autistic behavior (HP:0000729)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 (OMIM:617799)
Gene: CAMK2B
Phenotype: Athetoid cerebral palsy (HP:0011445)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 (OMIM:617799)
Gene: CAMK2B
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 (OMIM:617799)
Gene: CAMK2B
Phenotype: Dry skin (HP:0000958)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 (OMIM:617799)
Gene: CAMK2B
Phenotype: Anhidrosis (HP:0000970)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 (OMIM:617799)
Gene: CAMK2B
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 (OMIM:617799)
Gene: CAMK2B
Phenotype: Sparse hair (HP:0008070)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 (OMIM:617799)
Gene: CAMK2B
Phenotype: Microcephaly (HP:0000252)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 (OMIM:617799)
Gene: CAMK2B
Phenotype: Hyperventilation (HP:0002883)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 (OMIM:617799)
Gene: CAMK2B
Phenotype: Small for gestational age (HP:0001518)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 (OMIM:617799)
Gene: CAMK2B
Phenotype: Growth delay (HP:0001510)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 (OMIM:617799)
Gene: CAMK2B
Phenotype: Vocal cord paralysis (HP:0001605)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 (OMIM:617799)
Gene: CAMK2B
Phenotype: Narrow forehead (HP:0000341)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 (OMIM:617799)
Gene: CAMK2B
Phenotype: Sloping forehead (HP:0000340)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 (OMIM:617799)
Gene: CAMK2B
Phenotype: Short chin (HP:0000331)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 (OMIM:617799)
Gene: CAMK2B
Phenotype: Persistent head lag (HP:0032988)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 (OMIM:617799)
Gene: CAMK2B
Phenotype: Astigmatism (HP:0000483)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 (OMIM:617799)
Gene: CAMK2B
Phenotype: Strabismus (HP:0000486)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 (OMIM:617799)
Gene: CAMK2B
Phenotype: Deeply set eye (HP:0000490)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 (OMIM:617799)
Gene: CAMK2B
Phenotype: Chronic constipation (HP:0012450)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 (OMIM:617799)
Gene: CAMK2B
Phenotype: Visual impairment (HP:0000505)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 (OMIM:617799)
Gene: CAMK2B
Phenotype: Thin nail (HP:0001816)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 (OMIM:617799)
Gene: CAMK2B
Phenotype: Prominent forehead (HP:0011220)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 (OMIM:617799)
Gene: CAMK2B
Phenotype: Esotropia (HP:0000565)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 (OMIM:617799)
Gene: CAMK2B
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 54 (OMIM:617799)
Gene: CAMK2G
Phenotype: Brachydactyly (HP:0001156)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 59 (OMIM:618522)
Gene: CAMK2G
Phenotype: Poor speech (HP:0002465)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 59 (OMIM:618522)
Gene: CAMK2G
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 59 (OMIM:618522)
Gene: CAMK2G
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 59 (OMIM:618522)
Gene: CAMK2G
Phenotype: Seizure (HP:0001250)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 59 (OMIM:618522)
Gene: CAMK2G
Phenotype: Global developmental delay (HP:0001263)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 59 (OMIM:618522)
Gene: CAMK2G
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 59 (OMIM:618522)
Gene: CAMK2G
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 59 (OMIM:618522)
Gene: CAMK2G
Phenotype: Infantile onset (HP:0003593)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 59 (OMIM:618522)
Gene: CAMK2G
Phenotype: Mild short stature (HP:0003502)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 59 (OMIM:618522)
Gene: CAMK2G
Phenotype: Short palm (HP:0004279)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 59 (OMIM:618522)
Gene: CAMK2G
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 59 (OMIM:618522)
Gene: CAMK2G
Phenotype: Short stature (HP:0004322)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 59 (OMIM:618522)
Gene: CAMK2G
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 59 (OMIM:618522)
Gene: CAMK2G
Phenotype: Self-mutilation (HP:0000742)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 59 (OMIM:618522)
Gene: CAMK2G
Phenotype: Flat forehead (HP:0004425)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 59 (OMIM:618522)
Gene: CAMK2G
Phenotype: Sacral dimple (HP:0000960)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 59 (OMIM:618522)
Gene: CAMK2G
Phenotype: Facial hypotonia (HP:0000297)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 59 (OMIM:618522)
Gene: CAMK2G
Phenotype: Macrocephaly (HP:0000256)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 59 (OMIM:618522)
Gene: CAMK2G
Phenotype: Flat face (HP:0012368)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 59 (OMIM:618522)
Gene: CAMK2G
Phenotype: Low-set ears (HP:0000369)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 59 (OMIM:618522)
Gene: CAMK2G
Phenotype: Narrow forehead (HP:0000341)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 59 (OMIM:618522)
Gene: CAMK2G
Phenotype: Long philtrum (HP:0000343)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 59 (OMIM:618522)
Gene: CAMK2G
Phenotype: High forehead (HP:0000348)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 59 (OMIM:618522)
Gene: CAMK2G
Phenotype: Strabismus (HP:0000486)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 59 (OMIM:618522)
Gene: CAMK2G
Phenotype: Short foot (HP:0001773)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 59 (OMIM:618522)
Gene: CAMK2G
Phenotype: Protruding ear (HP:0000411)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 59 (OMIM:618522)
Gene: CAMK2G
Phenotype: Fragile nails (HP:0001808)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 59 (OMIM:618522)
Gene: CAMK2G
Phenotype: Myopia (HP:0000545)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 59 (OMIM:618522)
Gene: CAMLG
Phenotype: Poor head control (HP:0002421)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIz (OMIM:620201)
Gene: CAMLG
Phenotype: Seizure (HP:0001250)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIz (OMIM:620201)
Gene: CAMLG
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIz (OMIM:620201)
Gene: CAMLG
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIz (OMIM:620201)
Gene: CAMLG
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIz (OMIM:620201)
Gene: CAMLG
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIz (OMIM:620201)
Gene: CAMLG
Phenotype: Clonus (HP:0002169)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIz (OMIM:620201)
Gene: CAMLG
Phenotype: Infantile onset (HP:0003593)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIz (OMIM:620201)
Gene: CAMLG
Phenotype: Developmental regression (HP:0002376)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIz (OMIM:620201)
Gene: CAMLG
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIz (OMIM:620201)
Gene: CAMLG
Phenotype: Limb joint contracture (HP:0003121)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIz (OMIM:620201)
Gene: CAMLG
Phenotype: Diffuse cerebellar atrophy (HP:0100275)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIz (OMIM:620201)
Gene: CAMLG
Phenotype: Appendicular spasticity (HP:0034353)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIz (OMIM:620201)
Gene: CAMLG
Phenotype: Type II transferrin isoform profile (HP:0012301)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIz (OMIM:620201)
Gene: CAPN1
Phenotype: Spastic ataxia (HP:0002497)
Associated disease: SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE (OMIM:616907)
Gene: CAPN1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE (OMIM:616907)
Gene: CAPN1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE (OMIM:616907)
Gene: CAPN1
Phenotype: Ataxia (HP:0001251)
Associated disease: SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE (OMIM:616907)
Gene: CAPN1
Phenotype: Ataxia (HP:0001251)
Associated disease: SPG76; Autosomal recessive spastic paraplegia type 76 (ORPHA:488594)
Gene: CAPN1
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE (OMIM:616907)
Gene: CAPN1
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPG76; Autosomal recessive spastic paraplegia type 76 (ORPHA:488594)
Gene: CAPN1
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE (OMIM:616907)
Gene: CAPN1
Phenotype: Upper limb hyperreflexia (HP:0007350)
Associated disease: SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE (OMIM:616907)
Gene: CAPN1
Phenotype: Upper limb hyperreflexia (HP:0007350)
Associated disease: SPG76; Autosomal recessive spastic paraplegia type 76 (ORPHA:488594)
Gene: CAPN1
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE (OMIM:616907)
Gene: CAPN1
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: SPG76; Autosomal recessive spastic paraplegia type 76 (ORPHA:488594)
Gene: CAPN1
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE (OMIM:616907)
Gene: CAPN1
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE (OMIM:616907)
Gene: CAPN1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE (OMIM:616907)
Gene: CAPN1
Phenotype: Functional abnormality of the bladder (HP:0000009)
Associated disease: SPG76; Autosomal recessive spastic paraplegia type 76 (ORPHA:488594)
Gene: CAPN1
Phenotype: Dysmetria (HP:0001310)
Associated disease: SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE (OMIM:616907)
Gene: CAPN1
Phenotype: Scoliosis (HP:0002650)
Associated disease: SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE (OMIM:616907)
Gene: CAPN1
Phenotype: Scoliosis (HP:0002650)
Associated disease: SPG76; Autosomal recessive spastic paraplegia type 76 (ORPHA:488594)
Gene: CAPN1
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE (OMIM:616907)
Gene: CAPN1
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SPG76; Autosomal recessive spastic paraplegia type 76 (ORPHA:488594)
Gene: CAPN1
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE (OMIM:616907)
Gene: CAPN1
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: SPG76; Autosomal recessive spastic paraplegia type 76 (ORPHA:488594)
Gene: CAPN1
Phenotype: Sensory axonal neuropathy (HP:0003390)
Associated disease: SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE (OMIM:616907)
Gene: CAPN1
Phenotype: Limb ataxia (HP:0002070)
Associated disease: SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE (OMIM:616907)
Gene: CAPN1
Phenotype: Limb ataxia (HP:0002070)
Associated disease: SPG76; Autosomal recessive spastic paraplegia type 76 (ORPHA:488594)
Gene: CAPN1
Phenotype: Gait imbalance (HP:0002141)
Associated disease: SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE (OMIM:616907)
Gene: CAPN1
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE (OMIM:616907)
Gene: CAPN1
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPG76; Autosomal recessive spastic paraplegia type 76 (ORPHA:488594)
Gene: CAPN1
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE (OMIM:616907)
Gene: CAPN1
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: SPG76; Autosomal recessive spastic paraplegia type 76 (ORPHA:488594)
Gene: CAPN1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE (OMIM:616907)
Gene: CAPN1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: SPG76; Autosomal recessive spastic paraplegia type 76 (ORPHA:488594)
Gene: CAPN1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE (OMIM:616907)
Gene: CAPN1
Phenotype: Cerebellar vermis atrophy (HP:0006855)
Associated disease: SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE (OMIM:616907)
Gene: CAPN1
Phenotype: Nystagmus (HP:0000639)
Associated disease: SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE (OMIM:616907)
Gene: CAPN1
Phenotype: Upper limb spasticity (HP:0006986)
Associated disease: SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE (OMIM:616907)
Gene: CAPN1
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE (OMIM:616907)
Gene: CAPN1
Phenotype: Ankle clonus (HP:0011448)
Associated disease: SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE (OMIM:616907)
Gene: CAPN1
Phenotype: Ankle clonus (HP:0011448)
Associated disease: SPG76; Autosomal recessive spastic paraplegia type 76 (ORPHA:488594)
Gene: CAPN1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE (OMIM:616907)
Gene: CAPN1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: SPG76; Autosomal recessive spastic paraplegia type 76 (ORPHA:488594)
Gene: CAPN1
Phenotype: Appendicular spasticity (HP:0034353)
Associated disease: SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE (OMIM:616907)
Gene: CAPN1
Phenotype: Pes valgus (HP:0008081)
Associated disease: SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE (OMIM:616907)
Gene: CAPN1
Phenotype: Pes valgus (HP:0008081)
Associated disease: SPG76; Autosomal recessive spastic paraplegia type 76 (ORPHA:488594)
Gene: CAPN1
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE (OMIM:616907)
Gene: CAPN1
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: SPG76; Autosomal recessive spastic paraplegia type 76 (ORPHA:488594)
Gene: CAPN1
Phenotype: Pes cavus (HP:0001761)
Associated disease: SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE (OMIM:616907)
Gene: CAPN1
Phenotype: Pes cavus (HP:0001761)
Associated disease: SPG76; Autosomal recessive spastic paraplegia type 76 (ORPHA:488594)
Gene: CAPN3
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: Calpain-3-related limb-girdle muscular dystrophy R1; LGMD type 2A; Calpain-3-related LGMD R1; Autosomal recessive limb-girdle muscular dystrophy type 2A; Limb-girdle muscular dystrophy type 2A; Limb-girdle muscular dystrophy due to calpain deficiency; LGMD2A; Primary calpainopathy (ORPHA:267)
Gene: CAPN3
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4 (OMIM:618129)
Gene: CAPN3
Phenotype: Gait disturbance (HP:0001288)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1 (OMIM:253600)
Gene: CAPN3
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Calpain-3-related limb-girdle muscular dystrophy R1; LGMD type 2A; Calpain-3-related LGMD R1; Autosomal recessive limb-girdle muscular dystrophy type 2A; Limb-girdle muscular dystrophy type 2A; Limb-girdle muscular dystrophy due to calpain deficiency; LGMD2A; Primary calpainopathy (ORPHA:267)
Gene: CAPN3
Phenotype: Gait disturbance (HP:0001288)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4 (OMIM:618129)
Gene: CAPN3
Phenotype: Wrist flexion contracture (HP:0001239)
Associated disease: Calpain-3-related limb-girdle muscular dystrophy R1; LGMD type 2A; Calpain-3-related LGMD R1; Autosomal recessive limb-girdle muscular dystrophy type 2A; Limb-girdle muscular dystrophy type 2A; Limb-girdle muscular dystrophy due to calpain deficiency; LGMD2A; Primary calpainopathy (ORPHA:267)
Gene: CAPN3
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1 (OMIM:253600)
Gene: CAPN3
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Calpain-3-related limb-girdle muscular dystrophy R1; LGMD type 2A; Calpain-3-related LGMD R1; Autosomal recessive limb-girdle muscular dystrophy type 2A; Limb-girdle muscular dystrophy type 2A; Limb-girdle muscular dystrophy due to calpain deficiency; LGMD2A; Primary calpainopathy (ORPHA:267)
Gene: CAPN3
Phenotype: Pectoralis amyotrophy (HP:0012037)
Associated disease: Calpain-3-related limb-girdle muscular dystrophy R1; LGMD type 2A; Calpain-3-related LGMD R1; Autosomal recessive limb-girdle muscular dystrophy type 2A; Limb-girdle muscular dystrophy type 2A; Limb-girdle muscular dystrophy due to calpain deficiency; LGMD2A; Primary calpainopathy (ORPHA:267)
Gene: CAPN3
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1 (OMIM:253600)
Gene: CAPN3
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Calpain-3-related limb-girdle muscular dystrophy R1; LGMD type 2A; Calpain-3-related LGMD R1; Autosomal recessive limb-girdle muscular dystrophy type 2A; Limb-girdle muscular dystrophy type 2A; Limb-girdle muscular dystrophy due to calpain deficiency; LGMD2A; Primary calpainopathy (ORPHA:267)
Gene: CAPN3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1 (OMIM:253600)
Gene: CAPN3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4 (OMIM:618129)
Gene: CAPN3
Phenotype: Calf muscle hypertrophy (HP:0008981)
Associated disease: Calpain-3-related limb-girdle muscular dystrophy R1; LGMD type 2A; Calpain-3-related LGMD R1; Autosomal recessive limb-girdle muscular dystrophy type 2A; Limb-girdle muscular dystrophy type 2A; Limb-girdle muscular dystrophy due to calpain deficiency; LGMD2A; Primary calpainopathy (ORPHA:267)
Gene: CAPN3
Phenotype: Pelvic girdle amyotrophy (HP:0008946)
Associated disease: Calpain-3-related limb-girdle muscular dystrophy R1; LGMD type 2A; Calpain-3-related LGMD R1; Autosomal recessive limb-girdle muscular dystrophy type 2A; Limb-girdle muscular dystrophy type 2A; Limb-girdle muscular dystrophy due to calpain deficiency; LGMD2A; Primary calpainopathy (ORPHA:267)
Gene: CAPN3
Phenotype: Myalgia (HP:0003326)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4 (OMIM:618129)
Gene: CAPN3
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: Calpain-3-related limb-girdle muscular dystrophy R1; LGMD type 2A; Calpain-3-related LGMD R1; Autosomal recessive limb-girdle muscular dystrophy type 2A; Limb-girdle muscular dystrophy type 2A; Limb-girdle muscular dystrophy due to calpain deficiency; LGMD2A; Primary calpainopathy (ORPHA:267)
Gene: CAPN3
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4 (OMIM:618129)
Gene: CAPN3
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: Calpain-3-related limb-girdle muscular dystrophy R1; LGMD type 2A; Calpain-3-related LGMD R1; Autosomal recessive limb-girdle muscular dystrophy type 2A; Limb-girdle muscular dystrophy type 2A; Limb-girdle muscular dystrophy due to calpain deficiency; LGMD2A; Primary calpainopathy (ORPHA:267)