TaoMedAI/RareMedData huggingface dataset:
Gene: TRIM37
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRIM37
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIM37
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRIM37
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRIM37
Phenotype: Iris coloboma (HP:0000612)
Associated disease: MULIBREY NANISM (OMIM:253250)
Gene: TRIM37
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIM37
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRIM37
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIM37
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIM37
Phenotype: Dental crowding (HP:0000678)
Associated disease: MULIBREY NANISM (OMIM:253250)
Gene: TRIM37
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: MULIBREY NANISM (OMIM:253250)
Gene: TRIM37
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRIM37
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIM37
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIM37
Phenotype: Hypodontia (HP:0000668)
Associated disease: MULIBREY NANISM (OMIM:253250)
Gene: TRIM37
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIM37
Phenotype: Short stature (HP:0004322)
Associated disease: MULIBREY NANISM (OMIM:253250)
Gene: TRIM37
Phenotype: Short stature (HP:0004322)
Associated disease: MUL; Mulibrey growth disorder; Mulibrey nanism; Muscle-liver-brain-eye nanism (ORPHA:2576)
Gene: TRIM37
Phenotype: Cachexia (HP:0004326)
Associated disease: MUL; Mulibrey growth disorder; Mulibrey nanism; Muscle-liver-brain-eye nanism (ORPHA:2576)
Gene: TRIM37
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRIM37
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRIM37
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIM37
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIM37
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIM37
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIM37
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIM37
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIM37
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIM37
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIM37
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIM37
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIM37
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIM37
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIM37
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIM37
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRIM37
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRIM37
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIM37
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRIM37
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: MULIBREY NANISM (OMIM:253250)
Gene: TRIM37
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIM37
Phenotype: Thickened cortex of long bones (HP:0000935)
Associated disease: MULIBREY NANISM (OMIM:253250)
Gene: TRIM37
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIM37
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIM37
Phenotype: Macrocephaly (HP:0000256)
Associated disease: MUL; Mulibrey growth disorder; Mulibrey nanism; Muscle-liver-brain-eye nanism (ORPHA:2576)
Gene: TRIM37
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: MULIBREY NANISM (OMIM:253250)
Gene: TRIM37
Phenotype: Pericardial constriction (HP:0005132)
Associated disease: MULIBREY NANISM (OMIM:253250)
Gene: TRIM37
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIM37
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIM37
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRIM37
Phenotype: Ascites (HP:0001541)
Associated disease: MULIBREY NANISM (OMIM:253250)
Gene: TRIM37
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRIM37
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MULIBREY NANISM (OMIM:253250)
Gene: TRIM37
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MUL; Mulibrey growth disorder; Mulibrey nanism; Muscle-liver-brain-eye nanism (ORPHA:2576)
Gene: TRIM37
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIM37
Phenotype: Growth delay (HP:0001510)
Associated disease: MULIBREY NANISM (OMIM:253250)
Gene: TRIM37
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRIM37
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIM37
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIM37
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRIM37
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIM37
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRIM37
Phenotype: Myocardial fibrosis (HP:0001685)
Associated disease: MULIBREY NANISM (OMIM:253250)
Gene: TRIM37
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MULIBREY NANISM (OMIM:253250)
Gene: TRIM37
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIM37
Phenotype: Triangular face (HP:0000325)
Associated disease: MULIBREY NANISM (OMIM:253250)
Gene: TRIM37
Phenotype: Weak voice (HP:0001621)
Associated disease: MULIBREY NANISM (OMIM:253250)
Gene: TRIM37
Phenotype: Abnormally high-pitched voice (HP:0001620)
Associated disease: MUL; Mulibrey growth disorder; Mulibrey nanism; Muscle-liver-brain-eye nanism (ORPHA:2576)
Gene: TRIM37
Phenotype: Abnormally high-pitched voice (HP:0001620)
Associated disease: MULIBREY NANISM (OMIM:253250)
Gene: TRIM37
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: MULIBREY NANISM (OMIM:253250)
Gene: TRIM37
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIM37
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: MULIBREY NANISM (OMIM:253250)
Gene: TRIM37
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRIM37
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: MULIBREY NANISM (OMIM:253250)
Gene: TRIM37
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIM37
Phenotype: Astigmatism (HP:0000483)
Associated disease: MULIBREY NANISM (OMIM:253250)
Gene: TRIM37
Phenotype: Strabismus (HP:0000486)
Associated disease: MULIBREY NANISM (OMIM:253250)
Gene: TRIM37
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: MULIBREY NANISM (OMIM:253250)
Gene: TRIM37
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIM37
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIM37
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIM37
Phenotype: Wide nose (HP:0000445)
Associated disease: MULIBREY NANISM (OMIM:253250)
Gene: TRIM37
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: MULIBREY NANISM (OMIM:253250)
Gene: TRIM37
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: MUL; Mulibrey growth disorder; Mulibrey nanism; Muscle-liver-brain-eye nanism (ORPHA:2576)
Gene: TRIM37
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIM37
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TRIM37
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIM37
Phenotype: Pigmentary retinopathy (HP:0000580)
Associated disease: MULIBREY NANISM (OMIM:253250)
Gene: TRIM37
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIM37
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TRIM37
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: MUSK
Phenotype: Short umbilical cord (HP:0001196)
Associated disease: FETAL AKINESIA DEFORMATION SEQUENCE 1 (OMIM:208150)
Gene: MUSK
Phenotype: Ulnar deviation of the hand or of fingers of the hand (HP:0001193)
Associated disease: FETAL AKINESIA DEFORMATION SEQUENCE 1 (OMIM:208150)
Gene: MUSK
Phenotype: Increased nuchal translucency (HP:0010880)
Associated disease: FETAL AKINESIA DEFORMATION SEQUENCE 1 (OMIM:208150)
Gene: MUSK
Phenotype: Neck flexor weakness (HP:0003722)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: MUSK
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MUSK
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: FETAL AKINESIA DEFORMATION SEQUENCE 1 (OMIM:208150)
Gene: MUSK
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: MUSK
Phenotype: Motor delay (HP:0001270)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: MUSK
Phenotype: Hypotonia (HP:0001252)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: MUSK
Phenotype: Hypotonia (HP:0001252)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:616325)
Gene: MUSK
Phenotype: Dysarthria (HP:0001260)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: MUSK
Phenotype: Excessive daytime somnolence (HP:0001262)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MUSK
Phenotype: Wrist flexion contracture (HP:0001239)
Associated disease: FETAL AKINESIA DEFORMATION SEQUENCE 1 (OMIM:208150)
Gene: MUSK
Phenotype: Waddling gait (HP:0002515)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:616325)
Gene: MUSK
Phenotype: Variable expressivity (HP:0003828)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: MUSK
Phenotype: Stillbirth (HP:0003826)
Associated disease: FETAL AKINESIA DEFORMATION SEQUENCE 1 (OMIM:208150)
Gene: MUSK
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: MUSK
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:616325)
Gene: MUSK
Phenotype: Upgaze palsy (HP:0025331)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:616325)
Gene: MUSK
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MUSK
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: FETAL AKINESIA DEFORMATION SEQUENCE 1 (OMIM:208150)
Gene: MUSK
Phenotype: Abnormality of masticatory muscle (HP:0410011)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: MUSK
Phenotype: Absent septum pellucidum (HP:0001331)
Associated disease: FETAL AKINESIA DEFORMATION SEQUENCE 1 (OMIM:208150)
Gene: MUSK
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: MUSK
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: MUSK
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:616325)
Gene: MUSK
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: FETAL AKINESIA DEFORMATION SEQUENCE 1 (OMIM:208150)
Gene: MUSK
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MUSK
Phenotype: Scoliosis (HP:0002650)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:616325)
Gene: MUSK
Phenotype: Scoliosis (HP:0002650)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MUSK
Phenotype: Scoliosis (HP:0002650)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: MUSK
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: FETAL AKINESIA DEFORMATION SEQUENCE 1 (OMIM:208150)
Gene: MUSK
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:616325)
Gene: MUSK
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: MUSK
Phenotype: Triceps weakness (HP:0031108)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: MUSK
Phenotype: Narrow mouth (HP:0000160)
Associated disease: FETAL AKINESIA DEFORMATION SEQUENCE 1 (OMIM:208150)
Gene: MUSK
Phenotype: Cleft palate (HP:0000175)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MUSK
Phenotype: Cleft palate (HP:0000175)
Associated disease: FETAL AKINESIA DEFORMATION SEQUENCE 1 (OMIM:208150)
Gene: MUSK
Phenotype: Proximal muscle weakness in upper limbs (HP:0008997)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:616325)
Gene: MUSK
Phenotype: Distal lower limb amyotrophy (HP:0008944)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:616325)
Gene: MUSK
Phenotype: High, narrow palate (HP:0002705)
Associated disease: FETAL AKINESIA DEFORMATION SEQUENCE 1 (OMIM:208150)
Gene: MUSK
Phenotype: Small placenta (HP:0006266)
Associated disease: FETAL AKINESIA DEFORMATION SEQUENCE 1 (OMIM:208150)
Gene: MUSK
Phenotype: Abnormality of the musculature of the upper limbs (HP:0001446)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: MUSK
Phenotype: Reduced vital capacity (HP:0002792)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: MUSK
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: MUSK
Phenotype: Axial muscle weakness (HP:0003327)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:616325)
Gene: MUSK
Phenotype: Dysphagia (HP:0002015)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: MUSK
Phenotype: Dysphagia (HP:0002015)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:616325)
Gene: MUSK
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:616325)
Gene: MUSK
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:616325)
Gene: MUSK
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MUSK
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: FETAL AKINESIA DEFORMATION SEQUENCE 1 (OMIM:208150)
Gene: MUSK
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:616325)
Gene: MUSK
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MUSK
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: MUSK
Phenotype: Muscle spasm (HP:0003394)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: MUSK
Phenotype: Gowers sign (HP:0003391)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: MUSK
Phenotype: Gowers sign (HP:0003391)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:616325)
Gene: MUSK
Phenotype: Easy fatigability (HP:0003388)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: MUSK
Phenotype: Easy fatigability (HP:0003388)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:616325)
Gene: MUSK
Phenotype: Easy fatigability (HP:0003388)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: MUSK
Phenotype: Absent palmar crease (HP:0010489)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MUSK
Phenotype: Ulnar deviation of the hand (HP:0009487)
Associated disease: FETAL AKINESIA DEFORMATION SEQUENCE 1 (OMIM:208150)
Gene: MUSK
Phenotype: Fatigable weakness (HP:0003473)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: MUSK
Phenotype: Fatigable weakness (HP:0003473)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:616325)
Gene: MUSK
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: MUSK
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: MUSK
Phenotype: Decreased size of nerve terminals (HP:0003443)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: MUSK
Phenotype: Decreased size of nerve terminals (HP:0003443)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: MUSK
Phenotype: Decreased miniature endplate potentials (HP:0003402)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: MUSK
Phenotype: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation (HP:0003403)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: MUSK
Phenotype: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation (HP:0003403)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:616325)
Gene: MUSK
Phenotype: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation (HP:0003403)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: MUSK
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: MUSK
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: FETAL AKINESIA DEFORMATION SEQUENCE 1 (OMIM:208150)
Gene: MUSK
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MUSK
Phenotype: Sleep apnea (HP:0010535)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:616325)
Gene: MUSK
Phenotype: Infantile onset (HP:0003593)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: MUSK
Phenotype: Infantile onset (HP:0003593)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:616325)
Gene: MUSK
Phenotype: Congenital onset (HP:0003577)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:616325)
Gene: MUSK
Phenotype: Congenital onset (HP:0003577)
Associated disease: FETAL AKINESIA DEFORMATION SEQUENCE 1 (OMIM:208150)
Gene: MUSK
Phenotype: Type 2 muscle fiber atrophy (HP:0003554)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: MUSK
Phenotype: Shoulder girdle muscle weakness (HP:0003547)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:616325)
Gene: MUSK
Phenotype: Shoulder girdle muscle weakness (HP:0003547)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)