TaoMedAI/RareMedData huggingface dataset:
Gene: CEP63
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CEP63
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP63
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CEP63
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP63
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP63
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CEP63
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP63
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP63
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP63
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP63
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP63
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CEP63
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP63
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CEP63
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP63
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CEP63
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: EDEM3
Phenotype: Hypotonia (HP:0001252)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v (OMIM:619493)
Gene: EDEM3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v (OMIM:619493)
Gene: EDEM3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v (OMIM:619493)
Gene: EDEM3
Phenotype: Hydrocele testis (HP:0000034)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v (OMIM:619493)
Gene: EDEM3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v (OMIM:619493)
Gene: EDEM3
Phenotype: Cleft palate (HP:0000175)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v (OMIM:619493)
Gene: EDEM3
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v (OMIM:619493)
Gene: EDEM3
Phenotype: Low posterior hairline (HP:0002162)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v (OMIM:619493)
Gene: EDEM3
Phenotype: Infantile onset (HP:0003593)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v (OMIM:619493)
Gene: EDEM3
Phenotype: Enlarged cisterna magna (HP:0002280)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v (OMIM:619493)
Gene: EDEM3
Phenotype: Nevus flammeus (HP:0001052)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v (OMIM:619493)
Gene: EDEM3
Phenotype: Low hanging columella (HP:0009765)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v (OMIM:619493)
Gene: EDEM3
Phenotype: Periorbital fullness (HP:0000629)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v (OMIM:619493)
Gene: EDEM3
Phenotype: Periventricular leukomalacia (HP:0006970)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v (OMIM:619493)
Gene: EDEM3
Phenotype: Nasogastric tube feeding in infancy (HP:0011470)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v (OMIM:619493)
Gene: EDEM3
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v (OMIM:619493)
Gene: EDEM3
Phenotype: Epicanthus (HP:0000286)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v (OMIM:619493)
Gene: EDEM3
Phenotype: Retrognathia (HP:0000278)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v (OMIM:619493)
Gene: EDEM3
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v (OMIM:619493)
Gene: EDEM3
Phenotype: High palate (HP:0000218)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v (OMIM:619493)
Gene: EDEM3
Phenotype: Thickened helices (HP:0000391)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v (OMIM:619493)
Gene: EDEM3
Phenotype: Abnormal protein N-linked glycosylation (HP:0012347)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v (OMIM:619493)
Gene: EDEM3
Phenotype: Low-set ears (HP:0000369)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v (OMIM:619493)
Gene: EDEM3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v (OMIM:619493)
Gene: EDEM3
Phenotype: Short philtrum (HP:0000322)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v (OMIM:619493)
Gene: EDEM3
Phenotype: Astigmatism (HP:0000483)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v (OMIM:619493)
Gene: EDEM3
Phenotype: Strabismus (HP:0000486)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v (OMIM:619493)
Gene: EDEM3
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v (OMIM:619493)
Gene: EDEM3
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v (OMIM:619493)
Gene: EDEM3
Phenotype: Deeply set eye (HP:0000490)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v (OMIM:619493)
Gene: EDEM3
Phenotype: Bulbous nose (HP:0000414)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v (OMIM:619493)
Gene: EDEM3
Phenotype: Protruding ear (HP:0000411)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v (OMIM:619493)
Gene: EDEM3
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v (OMIM:619493)
Gene: EDEM3
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v (OMIM:619493)
Gene: EDEM3
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v (OMIM:619493)
Gene: EDEM3
Phenotype: Ptosis (HP:0000508)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v (OMIM:619493)
Gene: HSD3B7
Phenotype: Steatorrhea (HP:0002570)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1 (OMIM:607765)
Gene: HSD3B7
Phenotype: Hepatic failure (HP:0001399)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1 (OMIM:607765)
Gene: HSD3B7
Phenotype: Cirrhosis (HP:0001394)
Associated disease: 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency; BASD1; Congenital bile acid synthesis defect type 1 (ORPHA:79301)
Gene: HSD3B7
Phenotype: Cirrhosis (HP:0001394)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1 (OMIM:607765)
Gene: HSD3B7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1 (OMIM:607765)
Gene: HSD3B7
Phenotype: Fat malabsorption (HP:0002630)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1 (OMIM:607765)
Gene: HSD3B7
Phenotype: Reduced C27 3beta-HSD activity in cultured fibroblasts (HP:6000825)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1 (OMIM:607765)
Gene: HSD3B7
Phenotype: Intrahepatic cholestasis (HP:0001406)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1 (OMIM:607765)
Gene: HSD3B7
Phenotype: Rickets (HP:0002748)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1 (OMIM:607765)
Gene: HSD3B7
Phenotype: Malabsorption (HP:0002024)
Associated disease: 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency; BASD1; Congenital bile acid synthesis defect type 1 (ORPHA:79301)
Gene: HSD3B7
Phenotype: Diarrhea (HP:0002014)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1 (OMIM:607765)
Gene: HSD3B7
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency; BASD1; Congenital bile acid synthesis defect type 1 (ORPHA:79301)
Gene: HSD3B7
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1 (OMIM:607765)
Gene: HSD3B7
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency; BASD1; Congenital bile acid synthesis defect type 1 (ORPHA:79301)
Gene: HSD3B7
Phenotype: Giant cell hepatitis (HP:0200084)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1 (OMIM:607765)
Gene: HSD3B7
Phenotype: Acholic stools (HP:0011985)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1 (OMIM:607765)
Gene: HSD3B7
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency; BASD1; Congenital bile acid synthesis defect type 1 (ORPHA:79301)
Gene: HSD3B7
Phenotype: Biliary tract abnormality (HP:0001080)
Associated disease: 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency; BASD1; Congenital bile acid synthesis defect type 1 (ORPHA:79301)
Gene: HSD3B7
Phenotype: Neonatal onset (HP:0003623)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1 (OMIM:607765)
Gene: HSD3B7
Phenotype: Abnormality of coagulation (HP:0001928)
Associated disease: 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency; BASD1; Congenital bile acid synthesis defect type 1 (ORPHA:79301)
Gene: HSD3B7
Phenotype: Nyctalopia (HP:0000662)
Associated disease: 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency; BASD1; Congenital bile acid synthesis defect type 1 (ORPHA:79301)
Gene: HSD3B7
Phenotype: Hypocholesterolemia (HP:0003146)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1 (OMIM:607765)
Gene: HSD3B7
Phenotype: Abnormality of the coagulation cascade (HP:0003256)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1 (OMIM:607765)
Gene: HSD3B7
Phenotype: Pruritus (HP:0000989)
Associated disease: 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency; BASD1; Congenital bile acid synthesis defect type 1 (ORPHA:79301)
Gene: HSD3B7
Phenotype: Jaundice (HP:0000952)
Associated disease: 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency; BASD1; Congenital bile acid synthesis defect type 1 (ORPHA:79301)
Gene: HSD3B7
Phenotype: Jaundice (HP:0000952)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1 (OMIM:607765)
Gene: HSD3B7
Phenotype: Osteoporosis (HP:0000939)
Associated disease: 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency; BASD1; Congenital bile acid synthesis defect type 1 (ORPHA:79301)
Gene: HSD3B7
Phenotype: Failure to thrive (HP:0001508)
Associated disease: 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency; BASD1; Congenital bile acid synthesis defect type 1 (ORPHA:79301)
Gene: HSD3B7
Phenotype: Failure to thrive (HP:0001508)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1 (OMIM:607765)
Gene: HSD3B7
Phenotype: Neonatal cholestatic liver disease (HP:0006566)
Associated disease: 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency; BASD1; Congenital bile acid synthesis defect type 1 (ORPHA:79301)
Gene: HSD3B7
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency; BASD1; Congenital bile acid synthesis defect type 1 (ORPHA:79301)
Gene: HSD3B7
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1 (OMIM:607765)
Gene: HSD3B7
Phenotype: Conjugated hyperbilirubinemia (HP:0002908)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1 (OMIM:607765)
Gene: HSD3B7
Phenotype: Splenomegaly (HP:0001744)
Associated disease: 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency; BASD1; Congenital bile acid synthesis defect type 1 (ORPHA:79301)
Gene: HSD3B7
Phenotype: Splenomegaly (HP:0001744)
Associated disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1 (OMIM:607765)
Gene: HSD3B7
Phenotype: Abnormal bleeding (HP:0001892)
Associated disease: 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency; BASD1; Congenital bile acid synthesis defect type 1 (ORPHA:79301)
Gene: FLAD1
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: LIPID STORAGE MYOPATHY DUE TO FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE DEFICIENCY (OMIM:255100)
Gene: FLAD1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: LIPID STORAGE MYOPATHY DUE TO FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE DEFICIENCY (OMIM:255100)
Gene: FLAD1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LIPID STORAGE MYOPATHY DUE TO FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE DEFICIENCY (OMIM:255100)
Gene: FLAD1
Phenotype: Scoliosis (HP:0002650)
Associated disease: LIPID STORAGE MYOPATHY DUE TO FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE DEFICIENCY (OMIM:255100)
Gene: FLAD1
Phenotype: Dysphagia (HP:0002015)
Associated disease: LIPID STORAGE MYOPATHY DUE TO FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE DEFICIENCY (OMIM:255100)
Gene: FLAD1
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: LIPID STORAGE MYOPATHY DUE TO FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE DEFICIENCY (OMIM:255100)
Gene: FLAD1
Phenotype: Supraventricular tachycardia (HP:0004755)
Associated disease: LIPID STORAGE MYOPATHY DUE TO FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE DEFICIENCY (OMIM:255100)
Gene: FLAD1
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: LIPID STORAGE MYOPATHY DUE TO FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE DEFICIENCY (OMIM:255100)
Gene: FLAD1
Phenotype: Infantile onset (HP:0003593)
Associated disease: LIPID STORAGE MYOPATHY DUE TO FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE DEFICIENCY (OMIM:255100)
Gene: FLAD1
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: LIPID STORAGE MYOPATHY DUE TO FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE DEFICIENCY (OMIM:255100)
Gene: FLAD1
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: LIPID STORAGE MYOPATHY DUE TO FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE DEFICIENCY (OMIM:255100)
Gene: FLAD1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: LIPID STORAGE MYOPATHY DUE TO FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE DEFICIENCY (OMIM:255100)
Gene: FLAD1
Phenotype: Organic aciduria (HP:0001992)
Associated disease: LIPID STORAGE MYOPATHY DUE TO FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE DEFICIENCY (OMIM:255100)
Gene: FLAD1
Phenotype: Myopathy (HP:0003198)
Associated disease: LIPID STORAGE MYOPATHY DUE TO FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE DEFICIENCY (OMIM:255100)
Gene: FLAD1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: LIPID STORAGE MYOPATHY DUE TO FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE DEFICIENCY (OMIM:255100)
Gene: FLAD1
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: LIPID STORAGE MYOPATHY DUE TO FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE DEFICIENCY (OMIM:255100)
Gene: FLAD1
Phenotype: Fatty replacement of skeletal muscle (HP:0012548)
Associated disease: LIPID STORAGE MYOPATHY DUE TO FLAVIN ADENINE DINUCLEOTIDE SYNTHETASE DEFICIENCY (OMIM:255100)
Gene: KLHL15
Phenotype: Seizure (HP:0001250)
Associated disease: MENTAL RETARDATION, X-LINKED 103 (OMIM:300982)
Gene: KLHL15
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, X-LINKED 103 (OMIM:300982)
Gene: KLHL15
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, X-LINKED 103 (OMIM:300982)
Gene: KLHL15
Phenotype: Bilateral cryptorchidism (HP:0008689)
Associated disease: MENTAL RETARDATION, X-LINKED 103 (OMIM:300982)
Gene: KLHL15
Phenotype: Micropenis (HP:0000054)
Associated disease: MENTAL RETARDATION, X-LINKED 103 (OMIM:300982)
Gene: KLHL15
Phenotype: Absent speech (HP:0001344)
Associated disease: MENTAL RETARDATION, X-LINKED 103 (OMIM:300982)
Gene: KLHL15
Phenotype: Wide mouth (HP:0000154)
Associated disease: MENTAL RETARDATION, X-LINKED 103 (OMIM:300982)
Gene: KLHL15
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: MENTAL RETARDATION, X-LINKED 103 (OMIM:300982)
Gene: KLHL15
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: MENTAL RETARDATION, X-LINKED 103 (OMIM:300982)
Gene: KLHL15
Phenotype: Short palm (HP:0004279)
Associated disease: MENTAL RETARDATION, X-LINKED 103 (OMIM:300982)
Gene: KLHL15
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: MENTAL RETARDATION, X-LINKED 103 (OMIM:300982)
Gene: KLHL15
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: MENTAL RETARDATION, X-LINKED 103 (OMIM:300982)
Gene: KLHL15
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MENTAL RETARDATION, X-LINKED 103 (OMIM:300982)
Gene: KLHL15
Phenotype: Coarse facial features (HP:0000280)
Associated disease: MENTAL RETARDATION, X-LINKED 103 (OMIM:300982)
Gene: KLHL15
Phenotype: Anteverted nares (HP:0000463)
Associated disease: MENTAL RETARDATION, X-LINKED 103 (OMIM:300982)
Gene: SP6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IK (OMIM:620104)
Gene: SP6
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IK (OMIM:620104)
Gene: SP6
Phenotype: Amelogenesis imperfecta (HP:0000705)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IK (OMIM:620104)
Gene: PUS1
Phenotype: Mitochondrial myopathy (HP:0003737)
Associated disease: MLASA; Mitochondrial myopathy and sideroblastic anemia; Myopathy, lactic acidosis and sideroblastic anemia (ORPHA:2598)
Gene: PUS1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1 (OMIM:600462)
Gene: PUS1
Phenotype: Hypotonia (HP:0001252)
Associated disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1 (OMIM:600462)
Gene: PUS1
Phenotype: Hypotonia (HP:0001252)
Associated disease: MLASA; Mitochondrial myopathy and sideroblastic anemia; Myopathy, lactic acidosis and sideroblastic anemia (ORPHA:2598)
Gene: PUS1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1 (OMIM:600462)
Gene: PUS1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MLASA; Mitochondrial myopathy and sideroblastic anemia; Myopathy, lactic acidosis and sideroblastic anemia (ORPHA:2598)
Gene: PUS1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1 (OMIM:600462)
Gene: PUS1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1 (OMIM:600462)
Gene: PUS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1 (OMIM:600462)
Gene: PUS1
Phenotype: Scoliosis (HP:0002650)
Associated disease: MLASA; Mitochondrial myopathy and sideroblastic anemia; Myopathy, lactic acidosis and sideroblastic anemia (ORPHA:2598)
Gene: PUS1
Phenotype: Erythroid hyperplasia (HP:0012132)
Associated disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1 (OMIM:600462)
Gene: PUS1
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1 (OMIM:600462)
Gene: PUS1
Phenotype: Progressive muscle weakness (HP:0003323)
Associated disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1 (OMIM:600462)
Gene: PUS1
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1 (OMIM:600462)
Gene: PUS1
Phenotype: Gowers sign (HP:0003391)
Associated disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1 (OMIM:600462)
Gene: PUS1
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1 (OMIM:600462)
Gene: PUS1
Phenotype: EMG abnormality (HP:0003457)
Associated disease: MLASA; Mitochondrial myopathy and sideroblastic anemia; Myopathy, lactic acidosis and sideroblastic anemia (ORPHA:2598)
Gene: PUS1
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1 (OMIM:600462)
Gene: PUS1
Phenotype: Infantile onset (HP:0003593)
Associated disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1 (OMIM:600462)
Gene: PUS1
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1 (OMIM:600462)
Gene: PUS1
Phenotype: Distichiasis (HP:0009743)
Associated disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1 (OMIM:600462)
Gene: PUS1
Phenotype: Distichiasis (HP:0009743)
Associated disease: MLASA; Mitochondrial myopathy and sideroblastic anemia; Myopathy, lactic acidosis and sideroblastic anemia (ORPHA:2598)
Gene: PUS1
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1 (OMIM:600462)
Gene: PUS1
Phenotype: Pappenheimer bodies (HP:0020081)
Associated disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1 (OMIM:600462)
Gene: PUS1
Phenotype: Scapular winging (HP:0003691)
Associated disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1 (OMIM:600462)
Gene: PUS1
Phenotype: Cytochrome C oxidase-negative muscle fibers (HP:0003688)
Associated disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1 (OMIM:600462)
Gene: PUS1
Phenotype: Sideroblastic anemia (HP:0001924)
Associated disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1 (OMIM:600462)
Gene: PUS1
Phenotype: Abnormality of metabolism/homeostasis (HP:0001939)
Associated disease: MLASA; Mitochondrial myopathy and sideroblastic anemia; Myopathy, lactic acidosis and sideroblastic anemia (ORPHA:2598)
Gene: PUS1
Phenotype: Microcytic anemia (HP:0001935)
Associated disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1 (OMIM:600462)
Gene: PUS1
Phenotype: Hypochromic anemia (HP:0001931)
Associated disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1 (OMIM:600462)
Gene: PUS1
Phenotype: Anemia (HP:0001903)
Associated disease: MLASA; Mitochondrial myopathy and sideroblastic anemia; Myopathy, lactic acidosis and sideroblastic anemia (ORPHA:2598)
Gene: PUS1
Phenotype: Generalized limb muscle atrophy (HP:0009055)
Associated disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1 (OMIM:600462)
Gene: PUS1
Phenotype: Generalized limb muscle atrophy (HP:0009055)
Associated disease: MLASA; Mitochondrial myopathy and sideroblastic anemia; Myopathy, lactic acidosis and sideroblastic anemia (ORPHA:2598)
Gene: PUS1
Phenotype: Childhood onset (HP:0011463)
Associated disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1 (OMIM:600462)
Gene: PUS1
Phenotype: Myopathy (HP:0003198)
Associated disease: MLASA; Mitochondrial myopathy and sideroblastic anemia; Myopathy, lactic acidosis and sideroblastic anemia (ORPHA:2598)
Gene: PUS1
Phenotype: Short nose (HP:0003196)
Associated disease: MLASA; Mitochondrial myopathy and sideroblastic anemia; Myopathy, lactic acidosis and sideroblastic anemia (ORPHA:2598)
Gene: PUS1
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: MLASA; Mitochondrial myopathy and sideroblastic anemia; Myopathy, lactic acidosis and sideroblastic anemia (ORPHA:2598)
Gene: PUS1
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1 (OMIM:600462)
Gene: PUS1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: MYOPATHY, LACTIC ACIDOSIS, AND SIDEROBLASTIC ANEMIA 1 (OMIM:600462)