TaoMedAI/RareMedData huggingface dataset:
Gene: MUSK
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: MUSK
Phenotype: Facial palsy (HP:0010628)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: MUSK
Phenotype: Facial palsy (HP:0010628)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: MUSK
Phenotype: Cavum septum pellucidum (HP:0002389)
Associated disease: FETAL AKINESIA DEFORMATION SEQUENCE 1 (OMIM:208150)
Gene: MUSK
Phenotype: Fasciculations (HP:0002380)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:616325)
Gene: MUSK
Phenotype: Pterygium (HP:0001059)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MUSK
Phenotype: Hypokinesia (HP:0002375)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MUSK
Phenotype: Nonprogressive (HP:0003680)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: MUSK
Phenotype: Drowsiness (HP:0002329)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: MUSK
Phenotype: Neonatal onset (HP:0003623)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:616325)
Gene: MUSK
Phenotype: Akinesia (HP:0002304)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MUSK
Phenotype: Weakness of long finger extensor muscles (HP:0009077)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: MUSK
Phenotype: Diplopia (HP:0000651)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: MUSK
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:616325)
Gene: MUSK
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: MUSK
Phenotype: Weakness of the intrinsic hand muscles (HP:0009005)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: MUSK
Phenotype: Fetal akinesia sequence (HP:0001989)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MUSK
Phenotype: Fetal akinesia sequence (HP:0001989)
Associated disease: FETAL AKINESIA DEFORMATION SEQUENCE 1 (OMIM:208150)
Gene: MUSK
Phenotype: Thoracic kyphoscoliosis (HP:0005659)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: MUSK
Phenotype: Elbow ankylosis (HP:0003070)
Associated disease: FETAL AKINESIA DEFORMATION SEQUENCE 1 (OMIM:208150)
Gene: MUSK
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: FETAL AKINESIA DEFORMATION SEQUENCE 1 (OMIM:208150)
Gene: MUSK
Phenotype: Childhood onset (HP:0011463)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: MUSK
Phenotype: Childhood onset (HP:0011463)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:616325)
Gene: MUSK
Phenotype: Orthopnea (HP:0012764)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: MUSK
Phenotype: Slender long bone (HP:0003100)
Associated disease: FETAL AKINESIA DEFORMATION SEQUENCE 1 (OMIM:208150)
Gene: MUSK
Phenotype: Decreased muscle mass (HP:0003199)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: MUSK
Phenotype: Decreased muscle mass (HP:0003199)
Associated disease: FETAL AKINESIA DEFORMATION SEQUENCE 1 (OMIM:208150)
Gene: MUSK
Phenotype: Thin ribs (HP:0000883)
Associated disease: FETAL AKINESIA DEFORMATION SEQUENCE 1 (OMIM:208150)
Gene: MUSK
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: MUSK
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: MUSK
Phenotype: Elbow contracture (HP:0034391)
Associated disease: FETAL AKINESIA DEFORMATION SEQUENCE 1 (OMIM:208150)
Gene: MUSK
Phenotype: Hip contracture (HP:0003273)
Associated disease: FETAL AKINESIA DEFORMATION SEQUENCE 1 (OMIM:208150)
Gene: MUSK
Phenotype: Cyanosis (HP:0000961)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: MUSK
Phenotype: Long face (HP:0000276)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: MUSK
Phenotype: Multiple joint contractures (HP:0002828)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MUSK
Phenotype: Congenital contracture (HP:0002803)
Associated disease: FETAL AKINESIA DEFORMATION SEQUENCE 1 (OMIM:208150)
Gene: MUSK
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: MUSK
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MUSK
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: FETAL AKINESIA DEFORMATION SEQUENCE 1 (OMIM:208150)
Gene: MUSK
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: FETAL AKINESIA DEFORMATION SEQUENCE 1 (OMIM:208150)
Gene: MUSK
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: MUSK
Phenotype: High palate (HP:0000218)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: MUSK
Phenotype: High palate (HP:0000218)
Associated disease: FETAL AKINESIA DEFORMATION SEQUENCE 1 (OMIM:208150)
Gene: MUSK
Phenotype: High palate (HP:0000218)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: MUSK
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: MUSK
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: FETAL AKINESIA DEFORMATION SEQUENCE 1 (OMIM:208150)
Gene: MUSK
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MUSK
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: MUSK
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: FETAL AKINESIA DEFORMATION SEQUENCE 1 (OMIM:208150)
Gene: MUSK
Phenotype: Ankle weakness (HP:0031374)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: MUSK
Phenotype: Small for gestational age (HP:0001518)
Associated disease: FETAL AKINESIA DEFORMATION SEQUENCE 1 (OMIM:208150)
Gene: MUSK
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MUSK
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: FETAL AKINESIA DEFORMATION SEQUENCE 1 (OMIM:208150)
Gene: MUSK
Phenotype: Anti-neuromuscular Junction acetylcholine receptor antibody positivity (HP:0030208)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:616325)
Gene: MUSK
Phenotype: Thoracic hypoplasia (HP:0005257)
Associated disease: FETAL AKINESIA DEFORMATION SEQUENCE 1 (OMIM:208150)
Gene: MUSK
Phenotype: Intestinal hypoplasia (HP:0005245)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MUSK
Phenotype: Fatigable weakness of respiratory muscles (HP:0030196)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: MUSK
Phenotype: Weak cry (HP:0001612)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: MUSK
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:616325)
Gene: MUSK
Phenotype: Fatigable weakness of neck muscles (HP:0030199)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: MUSK
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MUSK
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: FETAL AKINESIA DEFORMATION SEQUENCE 1 (OMIM:208150)
Gene: MUSK
Phenotype: Low-set ears (HP:0000369)
Associated disease: FETAL AKINESIA DEFORMATION SEQUENCE 1 (OMIM:208150)
Gene: MUSK
Phenotype: Long philtrum (HP:0000343)
Associated disease: FETAL AKINESIA DEFORMATION SEQUENCE 1 (OMIM:208150)
Gene: MUSK
Phenotype: Micrognathia (HP:0000347)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MUSK
Phenotype: Micrognathia (HP:0000347)
Associated disease: FETAL AKINESIA DEFORMATION SEQUENCE 1 (OMIM:208150)
Gene: MUSK
Phenotype: Hypertelorism (HP:0000316)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MUSK
Phenotype: Hypertelorism (HP:0000316)
Associated disease: FETAL AKINESIA DEFORMATION SEQUENCE 1 (OMIM:208150)
Gene: MUSK
Phenotype: Premature birth (HP:0001622)
Associated disease: FETAL AKINESIA DEFORMATION SEQUENCE 1 (OMIM:208150)
Gene: MUSK
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: MUSK
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:616325)
Gene: MUSK
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MUSK
Phenotype: Strabismus (HP:0000486)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: MUSK
Phenotype: Anti-muscle-specific tyrosine kinase antibody (HP:0030210)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:616325)
Gene: MUSK
Phenotype: Tongue atrophy (HP:0012473)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:616325)
Gene: MUSK
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: MUSK
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: FETAL AKINESIA DEFORMATION SEQUENCE 1 (OMIM:208150)
Gene: MUSK
Phenotype: Abnormality of eye movement (HP:0000496)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: MUSK
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: FETAL AKINESIA DEFORMATION SEQUENCE 1 (OMIM:208150)
Gene: MUSK
Phenotype: Short neck (HP:0000470)
Associated disease: FETAL AKINESIA DEFORMATION SEQUENCE 1 (OMIM:208150)
Gene: MUSK
Phenotype: Neck muscle weakness (HP:0000467)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:616325)
Gene: MUSK
Phenotype: Depressed nasal tip (HP:0000437)
Associated disease: FETAL AKINESIA DEFORMATION SEQUENCE 1 (OMIM:208150)
Gene: MUSK
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: FETAL AKINESIA DEFORMATION SEQUENCE 1 (OMIM:208150)
Gene: MUSK
Phenotype: Proptosis (HP:0000520)
Associated disease: FETAL AKINESIA DEFORMATION SEQUENCE 1 (OMIM:208150)
Gene: MUSK
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: FETAL AKINESIA DEFORMATION SEQUENCE 1 (OMIM:208150)
Gene: MUSK
Phenotype: Telecanthus (HP:0000506)
Associated disease: FETAL AKINESIA DEFORMATION SEQUENCE 1 (OMIM:208150)
Gene: MUSK
Phenotype: Ptosis (HP:0000508)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: MUSK
Phenotype: Ptosis (HP:0000508)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 9, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:616325)
Gene: MUSK
Phenotype: Ptosis (HP:0000508)
Associated disease: FETAL AKINESIA DEFORMATION SEQUENCE 1 (OMIM:208150)
Gene: MUSK
Phenotype: Ptosis (HP:0000508)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: MUSK
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY (OMIM:608931)
Gene: MUSK
Phenotype: Ophthalmoparesis (HP:0000597)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: MUSK
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: FETAL AKINESIA DEFORMATION SEQUENCE 1 (OMIM:208150)
Gene: MUSK
Phenotype: Hip flexor weakness (HP:0012515)
Associated disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Gene: MMUT
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (OMIM:251000)
Gene: MMUT
Phenotype: Abnormal globus pallidus morphology (HP:0002453)
Associated disease: METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (OMIM:251000)
Gene: MMUT
Phenotype: Stroke (HP:0001297)
Associated disease: Vitamin B12-unresponsive methylmalonic aciduria type mut-; Vitamin B12-unresponsive methylmalonic acidemia type mut-; Partial deficiency of methylmalonyl-CoA mutase (ORPHA:79312)
Gene: MMUT
Phenotype: Sepsis (HP:0100806)
Associated disease: Vitamin B12-unresponsive methylmalonic aciduria type mut0; Complete deficiency of methylmalonyl-CoA mutase; Vitamin B12-unresponsive methylmalonic acidemia type mut0 (ORPHA:289916)
Gene: MMUT
Phenotype: Lethargy (HP:0001254)
Associated disease: Vitamin B12-unresponsive methylmalonic aciduria type mut0; Complete deficiency of methylmalonyl-CoA mutase; Vitamin B12-unresponsive methylmalonic acidemia type mut0 (ORPHA:289916)
Gene: MMUT
Phenotype: Lethargy (HP:0001254)
Associated disease: Vitamin B12-unresponsive methylmalonic aciduria type mut-; Vitamin B12-unresponsive methylmalonic acidemia type mut-; Partial deficiency of methylmalonyl-CoA mutase (ORPHA:79312)
Gene: MMUT
Phenotype: Lethargy (HP:0001254)
Associated disease: METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (OMIM:251000)
Gene: MMUT
Phenotype: Seizure (HP:0001250)
Associated disease: METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (OMIM:251000)
Gene: MMUT
Phenotype: Seizure (HP:0001250)
Associated disease: Vitamin B12-unresponsive methylmalonic aciduria type mut-; Vitamin B12-unresponsive methylmalonic acidemia type mut-; Partial deficiency of methylmalonyl-CoA mutase (ORPHA:79312)
Gene: MMUT
Phenotype: Hypotonia (HP:0001252)
Associated disease: Vitamin B12-unresponsive methylmalonic aciduria type mut0; Complete deficiency of methylmalonyl-CoA mutase; Vitamin B12-unresponsive methylmalonic acidemia type mut0 (ORPHA:289916)
Gene: MMUT
Phenotype: Hypotonia (HP:0001252)
Associated disease: METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (OMIM:251000)
Gene: MMUT
Phenotype: Hypotonia (HP:0001252)
Associated disease: Vitamin B12-unresponsive methylmalonic aciduria type mut-; Vitamin B12-unresponsive methylmalonic acidemia type mut-; Partial deficiency of methylmalonyl-CoA mutase (ORPHA:79312)
Gene: MMUT
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Vitamin B12-unresponsive methylmalonic aciduria type mut0; Complete deficiency of methylmalonyl-CoA mutase; Vitamin B12-unresponsive methylmalonic acidemia type mut0 (ORPHA:289916)
Gene: MMUT
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Vitamin B12-unresponsive methylmalonic aciduria type mut-; Vitamin B12-unresponsive methylmalonic acidemia type mut-; Partial deficiency of methylmalonyl-CoA mutase (ORPHA:79312)
Gene: MMUT
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: Vitamin B12-unresponsive methylmalonic aciduria type mut0; Complete deficiency of methylmalonyl-CoA mutase; Vitamin B12-unresponsive methylmalonic acidemia type mut0 (ORPHA:289916)
Gene: MMUT
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: Vitamin B12-unresponsive methylmalonic aciduria type mut-; Vitamin B12-unresponsive methylmalonic acidemia type mut-; Partial deficiency of methylmalonyl-CoA mutase (ORPHA:79312)
Gene: MMUT
Phenotype: Dysarthria (HP:0001260)
Associated disease: Vitamin B12-unresponsive methylmalonic aciduria type mut-; Vitamin B12-unresponsive methylmalonic acidemia type mut-; Partial deficiency of methylmalonyl-CoA mutase (ORPHA:79312)
Gene: MMUT
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Vitamin B12-unresponsive methylmalonic aciduria type mut0; Complete deficiency of methylmalonyl-CoA mutase; Vitamin B12-unresponsive methylmalonic acidemia type mut0 (ORPHA:289916)
Gene: MMUT
Phenotype: Global developmental delay (HP:0001263)
Associated disease: METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (OMIM:251000)
Gene: MMUT
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Vitamin B12-unresponsive methylmalonic aciduria type mut-; Vitamin B12-unresponsive methylmalonic acidemia type mut-; Partial deficiency of methylmalonyl-CoA mutase (ORPHA:79312)
Gene: MMUT
Phenotype: Coma (HP:0001259)
Associated disease: Vitamin B12-unresponsive methylmalonic aciduria type mut0; Complete deficiency of methylmalonyl-CoA mutase; Vitamin B12-unresponsive methylmalonic acidemia type mut0 (ORPHA:289916)
Gene: MMUT
Phenotype: Coma (HP:0001259)
Associated disease: METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (OMIM:251000)
Gene: MMUT
Phenotype: Coma (HP:0001259)
Associated disease: Vitamin B12-unresponsive methylmalonic aciduria type mut-; Vitamin B12-unresponsive methylmalonic acidemia type mut-; Partial deficiency of methylmalonyl-CoA mutase (ORPHA:79312)
Gene: MMUT
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Vitamin B12-unresponsive methylmalonic aciduria type mut0; Complete deficiency of methylmalonyl-CoA mutase; Vitamin B12-unresponsive methylmalonic acidemia type mut0 (ORPHA:289916)
Gene: MMUT
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Vitamin B12-unresponsive methylmalonic aciduria type mut-; Vitamin B12-unresponsive methylmalonic acidemia type mut-; Partial deficiency of methylmalonyl-CoA mutase (ORPHA:79312)
Gene: MMUT
Phenotype: Dystonia (HP:0001332)
Associated disease: Vitamin B12-unresponsive methylmalonic aciduria type mut-; Vitamin B12-unresponsive methylmalonic acidemia type mut-; Partial deficiency of methylmalonyl-CoA mutase (ORPHA:79312)
Gene: MMUT
Phenotype: Dystonia (HP:0001332)
Associated disease: Vitamin B12-unresponsive methylmalonic aciduria type mut0; Complete deficiency of methylmalonyl-CoA mutase; Vitamin B12-unresponsive methylmalonic acidemia type mut0 (ORPHA:289916)
Gene: MMUT
Phenotype: Muscle weakness (HP:0001324)
Associated disease: METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (OMIM:251000)
Gene: MMUT
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (OMIM:251000)
Gene: MMUT
Phenotype: Methylmalonic aciduria (HP:0012120)
Associated disease: METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (OMIM:251000)
Gene: MMUT
Phenotype: Renal tubular dysfunction (HP:0000124)
Associated disease: Vitamin B12-unresponsive methylmalonic aciduria type mut0; Complete deficiency of methylmalonyl-CoA mutase; Vitamin B12-unresponsive methylmalonic acidemia type mut0 (ORPHA:289916)
Gene: MMUT
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: Vitamin B12-unresponsive methylmalonic aciduria type mut-; Vitamin B12-unresponsive methylmalonic acidemia type mut-; Partial deficiency of methylmalonyl-CoA mutase (ORPHA:79312)
Gene: MMUT
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Vitamin B12-unresponsive methylmalonic aciduria type mut0; Complete deficiency of methylmalonyl-CoA mutase; Vitamin B12-unresponsive methylmalonic acidemia type mut0 (ORPHA:289916)
Gene: MMUT
Phenotype: Nausea and vomiting (HP:0002017)
Associated disease: Vitamin B12-unresponsive methylmalonic aciduria type mut-; Vitamin B12-unresponsive methylmalonic acidemia type mut-; Partial deficiency of methylmalonyl-CoA mutase (ORPHA:79312)
Gene: MMUT
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Vitamin B12-unresponsive methylmalonic aciduria type mut-; Vitamin B12-unresponsive methylmalonic acidemia type mut-; Partial deficiency of methylmalonyl-CoA mutase (ORPHA:79312)
Gene: MMUT
Phenotype: Diarrhea (HP:0002014)
Associated disease: METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (OMIM:251000)
Gene: MMUT
Phenotype: Vomiting (HP:0002013)
Associated disease: METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (OMIM:251000)
Gene: MMUT
Phenotype: Metabolic ketoacidosis (HP:0005979)
Associated disease: METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (OMIM:251000)
Gene: MMUT
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Vitamin B12-unresponsive methylmalonic aciduria type mut0; Complete deficiency of methylmalonyl-CoA mutase; Vitamin B12-unresponsive methylmalonic acidemia type mut0 (ORPHA:289916)
Gene: MMUT
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Vitamin B12-unresponsive methylmalonic aciduria type mut-; Vitamin B12-unresponsive methylmalonic acidemia type mut-; Partial deficiency of methylmalonyl-CoA mutase (ORPHA:79312)
Gene: MMUT
Phenotype: Respiratory distress (HP:0002098)
Associated disease: METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (OMIM:251000)
Gene: MMUT
Phenotype: Chorea (HP:0002072)
Associated disease: Vitamin B12-unresponsive methylmalonic aciduria type mut0; Complete deficiency of methylmalonyl-CoA mutase; Vitamin B12-unresponsive methylmalonic acidemia type mut0 (ORPHA:289916)
Gene: MMUT
Phenotype: Anorexia (HP:0002039)
Associated disease: Vitamin B12-unresponsive methylmalonic aciduria type mut-; Vitamin B12-unresponsive methylmalonic acidemia type mut-; Partial deficiency of methylmalonyl-CoA mutase (ORPHA:79312)
Gene: MMUT
Phenotype: Hyperglycinemia (HP:0002154)
Associated disease: METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (OMIM:251000)
Gene: MMUT
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-CoA MUTASE DEFICIENCY (OMIM:251000)