TaoMedAI/RareMedData huggingface dataset:
Gene: AFF3
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AFF3
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AFF3
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AFF3
Phenotype: Coxa valga (HP:0002673)
Associated disease: KINSSHIP SYNDROME (OMIM:619297)
Gene: AFF3
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AFF3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AFF3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: KINSSHIP SYNDROME (OMIM:619297)
Gene: AFF3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AFF3
Phenotype: Myoclonus (HP:0001336)
Associated disease: KINSSHIP SYNDROME (OMIM:619297)
Gene: AFF3
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: KINSSHIP SYNDROME (OMIM:619297)
Gene: AFF3
Phenotype: Scoliosis (HP:0002650)
Associated disease: KINSSHIP SYNDROME (OMIM:619297)
Gene: AFF3
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AFF3
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AFF3
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AFF3
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AFF3
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: KINSSHIP SYNDROME (OMIM:619297)
Gene: AFF3
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AFF3
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AFF3
Phenotype: Wide mouth (HP:0000154)
Associated disease: KINSSHIP SYNDROME (OMIM:619297)
Gene: AFF3
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: KINSSHIP SYNDROME (OMIM:619297)
Gene: AFF3
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: KINSSHIP SYNDROME (OMIM:619297)
Gene: AFF3
Phenotype: Respiratory arrest (HP:0005943)
Associated disease: KINSSHIP SYNDROME (OMIM:619297)
Gene: AFF3
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: KINSSHIP SYNDROME (OMIM:619297)
Gene: AFF3
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AFF3
Phenotype: Polydactyly (HP:0010442)
Associated disease: KINSSHIP SYNDROME (OMIM:619297)
Gene: AFF3
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AFF3
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: KINSSHIP SYNDROME (OMIM:619297)
Gene: AFF3
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: KINSSHIP SYNDROME (OMIM:619297)
Gene: AFF3
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: KINSSHIP SYNDROME (OMIM:619297)
Gene: AFF3
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: KINSSHIP SYNDROME (OMIM:619297)
Gene: AFF3
Phenotype: Enlarged cisterna magna (HP:0002280)
Associated disease: KINSSHIP SYNDROME (OMIM:619297)
Gene: AFF3
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AFF3
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AFF3
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AFF3
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AFF3
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AFF3
Phenotype: Low hanging columella (HP:0009765)
Associated disease: KINSSHIP SYNDROME (OMIM:619297)
Gene: AFF3
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AFF3
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AFF3
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AFF3
Phenotype: Nystagmus (HP:0000639)
Associated disease: KINSSHIP SYNDROME (OMIM:619297)
Gene: AFF3
Phenotype: Long palpebral fissure (HP:0000637)
Associated disease: KINSSHIP SYNDROME (OMIM:619297)
Gene: AFF3
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AFF3
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AFF3
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AFF3
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AFF3
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AFF3
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AFF3
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: KINSSHIP SYNDROME (OMIM:619297)
Gene: AFF3
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AFF3
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AFF3
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AFF3
Phenotype: Synophrys (HP:0000664)
Associated disease: KINSSHIP SYNDROME (OMIM:619297)
Gene: AFF3
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AFF3
Phenotype: Short stature (HP:0004322)
Associated disease: KINSSHIP SYNDROME (OMIM:619297)
Gene: AFF3
Phenotype: Dislocated radial head (HP:0003083)
Associated disease: KINSSHIP SYNDROME (OMIM:619297)
Gene: AFF3
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AFF3
Phenotype: Fibular hypoplasia (HP:0003038)
Associated disease: KINSSHIP SYNDROME (OMIM:619297)
Gene: AFF3
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AFF3
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AFF3
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AFF3
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AFF3
Phenotype: Mesomelia (HP:0003027)
Associated disease: KINSSHIP SYNDROME (OMIM:619297)
Gene: AFF3
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AFF3
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: KINSSHIP SYNDROME (OMIM:619297)
Gene: AFF3
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AFF3
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AFF3
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AFF3
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: KINSSHIP SYNDROME (OMIM:619297)
Gene: AFF3
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AFF3
Phenotype: Autistic behavior (HP:0000729)
Associated disease: KINSSHIP SYNDROME (OMIM:619297)
Gene: AFF3
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AFF3
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: KINSSHIP SYNDROME (OMIM:619297)
Gene: AFF3
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AFF3
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AFF3
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AFF3
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AFF3
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AFF3
Phenotype: Cervical ribs (HP:0000891)
Associated disease: KINSSHIP SYNDROME (OMIM:619297)
Gene: AFF3
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AFF3
Phenotype: Ankyloglossia (HP:0010296)
Associated disease: KINSSHIP SYNDROME (OMIM:619297)
Gene: AFF3
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AFF3
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AFF3
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: KINSSHIP SYNDROME (OMIM:619297)
Gene: AFF3
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: KINSSHIP SYNDROME (OMIM:619297)
Gene: AFF3
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AFF3
Phenotype: Sacral dimple (HP:0000960)
Associated disease: KINSSHIP SYNDROME (OMIM:619297)
Gene: AFF3
Phenotype: Osteopenia (HP:0000938)
Associated disease: KINSSHIP SYNDROME (OMIM:619297)
Gene: AFF3
Phenotype: Supernumerary ribs (HP:0005815)
Associated disease: KINSSHIP SYNDROME (OMIM:619297)
Gene: AFF3
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AFF3
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AFF3
Phenotype: Hip dislocation (HP:0002827)
Associated disease: KINSSHIP SYNDROME (OMIM:619297)
Gene: AFF3
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AFF3
Phenotype: Microcephaly (HP:0000252)
Associated disease: KINSSHIP SYNDROME (OMIM:619297)
Gene: AFF3
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AFF3
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: KINSSHIP SYNDROME (OMIM:619297)
Gene: AFF3
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: KINSSHIP SYNDROME (OMIM:619297)
Gene: AFF3
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AFF3
Phenotype: Death in infancy (HP:0001522)
Associated disease: KINSSHIP SYNDROME (OMIM:619297)
Gene: AFF3
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AFF3
Phenotype: Failure to thrive (HP:0001508)
Associated disease: KINSSHIP SYNDROME (OMIM:619297)
Gene: AFF3
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AFF3
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AFF3
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AFF3
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AFF3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AFF3
Phenotype: Low-set ears (HP:0000369)
Associated disease: KINSSHIP SYNDROME (OMIM:619297)
Gene: AFF3
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AFF3
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AFF3
Phenotype: Micrognathia (HP:0000347)
Associated disease: KINSSHIP SYNDROME (OMIM:619297)
Gene: AFF3
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: KINSSHIP SYNDROME (OMIM:619297)
Gene: AFF3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: KINSSHIP SYNDROME (OMIM:619297)
Gene: AFF3
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AFF3
Phenotype: Short philtrum (HP:0000322)
Associated disease: KINSSHIP SYNDROME (OMIM:619297)
Gene: AFF3
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AFF3
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: KINSSHIP SYNDROME (OMIM:619297)
Gene: AFF3
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AFF3
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AFF3
Phenotype: Strabismus (HP:0000486)
Associated disease: KINSSHIP SYNDROME (OMIM:619297)
Gene: AFF3
Phenotype: Brain atrophy (HP:0012444)
Associated disease: KINSSHIP SYNDROME (OMIM:619297)
Gene: AFF3
Phenotype: Chronic constipation (HP:0012450)
Associated disease: KINSSHIP SYNDROME (OMIM:619297)
Gene: AFF3
Phenotype: Short neck (HP:0000470)
Associated disease: KINSSHIP SYNDROME (OMIM:619297)
Gene: AFF3
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AFF3
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AFF3
Phenotype: Pes planus (HP:0001763)
Associated disease: KINSSHIP SYNDROME (OMIM:619297)
Gene: AFF3
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AFF3
Phenotype: Bulbous nose (HP:0000414)
Associated disease: KINSSHIP SYNDROME (OMIM:619297)
Gene: AFF3
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AFF3
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: AFF3
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AFF3
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AFF3
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: AFF3
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LAMA2
Phenotype: Astrocytosis (HP:0002446)
Associated disease: Merosin-negative congenital muscular dystrophy; MDC1A; Congenital muscular dystrophy due to laminin alpha2 deficiency; CMD1A; Laminin subunit alpha 2-related congenital muscular dystrophy; Congenital muscular dystrophy type 1A (ORPHA:258)
Gene: LAMA2
Phenotype: Neck flexor weakness (HP:0003722)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 (OMIM:618138)
Gene: LAMA2
Phenotype: Exercise-induced muscle cramps (HP:0003710)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 (OMIM:618138)
Gene: LAMA2
Phenotype: Motor delay (HP:0001270)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 (OMIM:618138)
Gene: LAMA2
Phenotype: Motor delay (HP:0001270)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A (OMIM:607855)
Gene: LAMA2
Phenotype: Motor delay (HP:0001270)
Associated disease: Merosin-negative congenital muscular dystrophy; MDC1A; Congenital muscular dystrophy due to laminin alpha2 deficiency; CMD1A; Laminin subunit alpha 2-related congenital muscular dystrophy; Congenital muscular dystrophy type 1A (ORPHA:258)
Gene: LAMA2
Phenotype: Areflexia (HP:0001284)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 (OMIM:618138)
Gene: LAMA2
Phenotype: Areflexia (HP:0001284)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A (OMIM:607855)
Gene: LAMA2
Phenotype: Seizure (HP:0001250)
Associated disease: Merosin-negative congenital muscular dystrophy; MDC1A; Congenital muscular dystrophy due to laminin alpha2 deficiency; CMD1A; Laminin subunit alpha 2-related congenital muscular dystrophy; Congenital muscular dystrophy type 1A (ORPHA:258)
Gene: LAMA2
Phenotype: Seizure (HP:0001250)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 (OMIM:618138)
Gene: LAMA2
Phenotype: Seizure (HP:0001250)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A (OMIM:607855)
Gene: LAMA2
Phenotype: Hypotonia (HP:0001252)
Associated disease: Merosin-negative congenital muscular dystrophy; MDC1A; Congenital muscular dystrophy due to laminin alpha2 deficiency; CMD1A; Laminin subunit alpha 2-related congenital muscular dystrophy; Congenital muscular dystrophy type 1A (ORPHA:258)
Gene: LAMA2
Phenotype: Hypotonia (HP:0001252)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A (OMIM:607855)
Gene: LAMA2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Merosin-negative congenital muscular dystrophy; MDC1A; Congenital muscular dystrophy due to laminin alpha2 deficiency; CMD1A; Laminin subunit alpha 2-related congenital muscular dystrophy; Congenital muscular dystrophy type 1A (ORPHA:258)
Gene: LAMA2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A (OMIM:607855)
Gene: LAMA2
Phenotype: Elevated muscle fiber laminin alpha 5 expression (HP:6000659)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 (OMIM:618138)
Gene: LAMA2
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: Merosin-negative congenital muscular dystrophy; MDC1A; Congenital muscular dystrophy due to laminin alpha2 deficiency; CMD1A; Laminin subunit alpha 2-related congenital muscular dystrophy; Congenital muscular dystrophy type 1A (ORPHA:258)
Gene: LAMA2
Phenotype: Inability to walk (HP:0002540)
Associated disease: Merosin-negative congenital muscular dystrophy; MDC1A; Congenital muscular dystrophy due to laminin alpha2 deficiency; CMD1A; Laminin subunit alpha 2-related congenital muscular dystrophy; Congenital muscular dystrophy type 1A (ORPHA:258)
Gene: LAMA2
Phenotype: Abnormal cortical gyration (HP:0002536)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A (OMIM:607855)
Gene: LAMA2
Phenotype: Waddling gait (HP:0002515)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 (OMIM:618138)
Gene: LAMA2
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 (OMIM:618138)
Gene: LAMA2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Merosin-negative congenital muscular dystrophy; MDC1A; Congenital muscular dystrophy due to laminin alpha2 deficiency; CMD1A; Laminin subunit alpha 2-related congenital muscular dystrophy; Congenital muscular dystrophy type 1A (ORPHA:258)
Gene: LAMA2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A (OMIM:607855)
Gene: LAMA2
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A (OMIM:607855)
Gene: LAMA2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Merosin-negative congenital muscular dystrophy; MDC1A; Congenital muscular dystrophy due to laminin alpha2 deficiency; CMD1A; Laminin subunit alpha 2-related congenital muscular dystrophy; Congenital muscular dystrophy type 1A (ORPHA:258)
Gene: LAMA2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A (OMIM:607855)
Gene: LAMA2
Phenotype: Lissencephaly (HP:0001339)
Associated disease: Merosin-negative congenital muscular dystrophy; MDC1A; Congenital muscular dystrophy due to laminin alpha2 deficiency; CMD1A; Laminin subunit alpha 2-related congenital muscular dystrophy; Congenital muscular dystrophy type 1A (ORPHA:258)
Gene: LAMA2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 (OMIM:618138)
Gene: LAMA2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A (OMIM:607855)
Gene: LAMA2
Phenotype: Pachygyria (HP:0001302)
Associated disease: Merosin-negative congenital muscular dystrophy; MDC1A; Congenital muscular dystrophy due to laminin alpha2 deficiency; CMD1A; Laminin subunit alpha 2-related congenital muscular dystrophy; Congenital muscular dystrophy type 1A (ORPHA:258)
Gene: LAMA2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Merosin-negative congenital muscular dystrophy; MDC1A; Congenital muscular dystrophy due to laminin alpha2 deficiency; CMD1A; Laminin subunit alpha 2-related congenital muscular dystrophy; Congenital muscular dystrophy type 1A (ORPHA:258)
Gene: LAMA2
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: Merosin-negative congenital muscular dystrophy; MDC1A; Congenital muscular dystrophy due to laminin alpha2 deficiency; CMD1A; Laminin subunit alpha 2-related congenital muscular dystrophy; Congenital muscular dystrophy type 1A (ORPHA:258)
Gene: LAMA2
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Merosin-negative congenital muscular dystrophy; MDC1A; Congenital muscular dystrophy due to laminin alpha2 deficiency; CMD1A; Laminin subunit alpha 2-related congenital muscular dystrophy; Congenital muscular dystrophy type 1A (ORPHA:258)
Gene: LAMA2
Phenotype: Open mouth (HP:0000194)
Associated disease: Merosin-negative congenital muscular dystrophy; MDC1A; Congenital muscular dystrophy due to laminin alpha2 deficiency; CMD1A; Laminin subunit alpha 2-related congenital muscular dystrophy; Congenital muscular dystrophy type 1A (ORPHA:258)
Gene: LAMA2
Phenotype: Macroglossia (HP:0000158)
Associated disease: Merosin-negative congenital muscular dystrophy; MDC1A; Congenital muscular dystrophy due to laminin alpha2 deficiency; CMD1A; Laminin subunit alpha 2-related congenital muscular dystrophy; Congenital muscular dystrophy type 1A (ORPHA:258)
Gene: LAMA2
Phenotype: Proximal muscle weakness in lower limbs (HP:0008994)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 (OMIM:618138)
Gene: LAMA2
Phenotype: Proximal muscle weakness in upper limbs (HP:0008997)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 (OMIM:618138)
Gene: LAMA2
Phenotype: Calf muscle hypertrophy (HP:0008981)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 (OMIM:618138)
Gene: LAMA2
Phenotype: Recurrent lower respiratory tract infections (HP:0002783)
Associated disease: Merosin-negative congenital muscular dystrophy; MDC1A; Congenital muscular dystrophy due to laminin alpha2 deficiency; CMD1A; Laminin subunit alpha 2-related congenital muscular dystrophy; Congenital muscular dystrophy type 1A (ORPHA:258)
Gene: LAMA2
Phenotype: Hypoventilation (HP:0002791)
Associated disease: Merosin-negative congenital muscular dystrophy; MDC1A; Congenital muscular dystrophy due to laminin alpha2 deficiency; CMD1A; Laminin subunit alpha 2-related congenital muscular dystrophy; Congenital muscular dystrophy type 1A (ORPHA:258)
Gene: LAMA2
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A (OMIM:607855)
Gene: LAMA2
Phenotype: Internally nucleated skeletal muscle fibers (HP:0031237)
Associated disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 23 (OMIM:618138)
Gene: LAMA2
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: MUSCULAR DYSTROPHY, CONGENITAL MEROSIN-DEFICIENT, 1A (OMIM:607855)
Gene: LAMA2
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Merosin-negative congenital muscular dystrophy; MDC1A; Congenital muscular dystrophy due to laminin alpha2 deficiency; CMD1A; Laminin subunit alpha 2-related congenital muscular dystrophy; Congenital muscular dystrophy type 1A (ORPHA:258)