TaoMedAI/RareMedData huggingface dataset:
Gene: MCTP2
Phenotype: Growth delay (HP:0001510)
Associated disease: Telomeric 15q deletion syndrome; Distal monosomy 15q; 15q26 deletion syndrome; Monosomy 15q26; Distal deletion 15q syndrome (ORPHA:1596)
Gene: MCTP2
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Telomeric 15q deletion syndrome; Distal monosomy 15q; 15q26 deletion syndrome; Monosomy 15q26; Distal deletion 15q syndrome (ORPHA:1596)
Gene: MCTP2
Phenotype: Low-set ears (HP:0000369)
Associated disease: Telomeric 15q deletion syndrome; Distal monosomy 15q; 15q26 deletion syndrome; Monosomy 15q26; Distal deletion 15q syndrome (ORPHA:1596)
Gene: MCTP2
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: Telomeric 15q deletion syndrome; Distal monosomy 15q; 15q26 deletion syndrome; Monosomy 15q26; Distal deletion 15q syndrome (ORPHA:1596)
Gene: MCTP2
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: MCTP2
Phenotype: Coarctation of aorta (HP:0001680)
Associated disease: Telomeric 15q deletion syndrome; Distal monosomy 15q; 15q26 deletion syndrome; Monosomy 15q26; Distal deletion 15q syndrome (ORPHA:1596)
Gene: MCTP2
Phenotype: Micrognathia (HP:0000347)
Associated disease: Telomeric 15q deletion syndrome; Distal monosomy 15q; 15q26 deletion syndrome; Monosomy 15q26; Distal deletion 15q syndrome (ORPHA:1596)
Gene: MCTP2
Phenotype: Abnormal aortic arch morphology (HP:0012303)
Associated disease: Telomeric 15q deletion syndrome; Distal monosomy 15q; 15q26 deletion syndrome; Monosomy 15q26; Distal deletion 15q syndrome (ORPHA:1596)
Gene: MCTP2
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: Telomeric 15q deletion syndrome; Distal monosomy 15q; 15q26 deletion syndrome; Monosomy 15q26; Distal deletion 15q syndrome (ORPHA:1596)
Gene: MCTP2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Telomeric 15q deletion syndrome; Distal monosomy 15q; 15q26 deletion syndrome; Monosomy 15q26; Distal deletion 15q syndrome (ORPHA:1596)
Gene: MCTP2
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Telomeric 15q deletion syndrome; Distal monosomy 15q; 15q26 deletion syndrome; Monosomy 15q26; Distal deletion 15q syndrome (ORPHA:1596)
Gene: MCTP2
Phenotype: Short philtrum (HP:0000322)
Associated disease: Telomeric 15q deletion syndrome; Distal monosomy 15q; 15q26 deletion syndrome; Monosomy 15q26; Distal deletion 15q syndrome (ORPHA:1596)
Gene: MCTP2
Phenotype: Triangular face (HP:0000325)
Associated disease: Telomeric 15q deletion syndrome; Distal monosomy 15q; 15q26 deletion syndrome; Monosomy 15q26; Distal deletion 15q syndrome (ORPHA:1596)
Gene: MCTP2
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: MCTP2
Phenotype: Mitral stenosis (HP:0001718)
Associated disease: Telomeric 15q deletion syndrome; Distal monosomy 15q; 15q26 deletion syndrome; Monosomy 15q26; Distal deletion 15q syndrome (ORPHA:1596)
Gene: MCTP2
Phenotype: Strabismus (HP:0000486)
Associated disease: Telomeric 15q deletion syndrome; Distal monosomy 15q; 15q26 deletion syndrome; Monosomy 15q26; Distal deletion 15q syndrome (ORPHA:1596)
Gene: MCTP2
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: Telomeric 15q deletion syndrome; Distal monosomy 15q; 15q26 deletion syndrome; Monosomy 15q26; Distal deletion 15q syndrome (ORPHA:1596)
Gene: MCTP2
Phenotype: Small nail (HP:0001792)
Associated disease: Telomeric 15q deletion syndrome; Distal monosomy 15q; 15q26 deletion syndrome; Monosomy 15q26; Distal deletion 15q syndrome (ORPHA:1596)
Gene: MCTP2
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: Telomeric 15q deletion syndrome; Distal monosomy 15q; 15q26 deletion syndrome; Monosomy 15q26; Distal deletion 15q syndrome (ORPHA:1596)
Gene: MCTP2
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: Telomeric 15q deletion syndrome; Distal monosomy 15q; 15q26 deletion syndrome; Monosomy 15q26; Distal deletion 15q syndrome (ORPHA:1596)
Gene: MCTP2
Phenotype: Flat occiput (HP:0005469)
Associated disease: Telomeric 15q deletion syndrome; Distal monosomy 15q; 15q26 deletion syndrome; Monosomy 15q26; Distal deletion 15q syndrome (ORPHA:1596)
Gene: MCTP2
Phenotype: Proptosis (HP:0000520)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: MCTP2
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Telomeric 15q deletion syndrome; Distal monosomy 15q; 15q26 deletion syndrome; Monosomy 15q26; Distal deletion 15q syndrome (ORPHA:1596)
Gene: MCTP2
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: Telomeric 15q deletion syndrome; Distal monosomy 15q; 15q26 deletion syndrome; Monosomy 15q26; Distal deletion 15q syndrome (ORPHA:1596)
Gene: MCTP2
Phenotype: Decreased serum insulin-like growth factor 1 (HP:0030353)
Associated disease: Telomeric 15q deletion syndrome; Distal monosomy 15q; 15q26 deletion syndrome; Monosomy 15q26; Distal deletion 15q syndrome (ORPHA:1596)
Gene: LMBRD1
Phenotype: Microtia (HP:0008551)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE (OMIM:277380)
Gene: LMBRD1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE (OMIM:277380)
Gene: LMBRD1
Phenotype: Lethargy (HP:0001254)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE (OMIM:277380)
Gene: LMBRD1
Phenotype: Lethargy (HP:0001254)
Associated disease: Methylmalonic aciduria with homocystinuria, type cblF; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF; CblF defect; Lysosomal membrane cobalamin transporter deficiency; Cobalamin F defect; Methylmalonic acidemia with homocystinuria type cblF (ORPHA:79284)
Gene: LMBRD1
Phenotype: Seizure (HP:0001250)
Associated disease: Methylmalonic aciduria with homocystinuria, type cblF; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF; CblF defect; Lysosomal membrane cobalamin transporter deficiency; Cobalamin F defect; Methylmalonic acidemia with homocystinuria type cblF (ORPHA:79284)
Gene: LMBRD1
Phenotype: Hypotonia (HP:0001252)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE (OMIM:277380)
Gene: LMBRD1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Methylmalonic aciduria with homocystinuria, type cblF; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF; CblF defect; Lysosomal membrane cobalamin transporter deficiency; Cobalamin F defect; Methylmalonic acidemia with homocystinuria type cblF (ORPHA:79284)
Gene: LMBRD1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Methylmalonic aciduria with homocystinuria, type cblF; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF; CblF defect; Lysosomal membrane cobalamin transporter deficiency; Cobalamin F defect; Methylmalonic acidemia with homocystinuria type cblF (ORPHA:79284)
Gene: LMBRD1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE (OMIM:277380)
Gene: LMBRD1
Phenotype: Tracheoesophageal fistula (HP:0002575)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE (OMIM:277380)
Gene: LMBRD1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE (OMIM:277380)
Gene: LMBRD1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Methylmalonic aciduria with homocystinuria, type cblF; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF; CblF defect; Lysosomal membrane cobalamin transporter deficiency; Cobalamin F defect; Methylmalonic acidemia with homocystinuria type cblF (ORPHA:79284)
Gene: LMBRD1
Phenotype: Methylmalonic aciduria (HP:0012120)
Associated disease: Methylmalonic aciduria with homocystinuria, type cblF; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF; CblF defect; Lysosomal membrane cobalamin transporter deficiency; Cobalamin F defect; Methylmalonic acidemia with homocystinuria type cblF (ORPHA:79284)
Gene: LMBRD1
Phenotype: Methylmalonic aciduria (HP:0012120)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE (OMIM:277380)
Gene: LMBRD1
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: Methylmalonic aciduria with homocystinuria, type cblF; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF; CblF defect; Lysosomal membrane cobalamin transporter deficiency; Cobalamin F defect; Methylmalonic acidemia with homocystinuria type cblF (ORPHA:79284)
Gene: LMBRD1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE (OMIM:277380)
Gene: LMBRD1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Methylmalonic aciduria with homocystinuria, type cblF; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF; CblF defect; Lysosomal membrane cobalamin transporter deficiency; Cobalamin F defect; Methylmalonic acidemia with homocystinuria type cblF (ORPHA:79284)
Gene: LMBRD1
Phenotype: Decreased circulating vitamin B12 concentration (HP:0100502)
Associated disease: Methylmalonic aciduria with homocystinuria, type cblF; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF; CblF defect; Lysosomal membrane cobalamin transporter deficiency; Cobalamin F defect; Methylmalonic acidemia with homocystinuria type cblF (ORPHA:79284)
Gene: LMBRD1
Phenotype: Homocystinuria (HP:0002156)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE (OMIM:277380)
Gene: LMBRD1
Phenotype: Hyperhomocystinemia (HP:0002160)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE (OMIM:277380)
Gene: LMBRD1
Phenotype: Hyperhomocystinemia (HP:0002160)
Associated disease: Methylmalonic aciduria with homocystinuria, type cblF; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF; CblF defect; Lysosomal membrane cobalamin transporter deficiency; Cobalamin F defect; Methylmalonic acidemia with homocystinuria type cblF (ORPHA:79284)
Gene: LMBRD1
Phenotype: Infantile onset (HP:0003593)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE (OMIM:277380)
Gene: LMBRD1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE (OMIM:277380)
Gene: LMBRD1
Phenotype: Decreased methionine synthase activity (HP:0003524)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE (OMIM:277380)
Gene: LMBRD1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE (OMIM:277380)
Gene: LMBRD1
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Methylmalonic aciduria with homocystinuria, type cblF; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF; CblF defect; Lysosomal membrane cobalamin transporter deficiency; Cobalamin F defect; Methylmalonic acidemia with homocystinuria type cblF (ORPHA:79284)
Gene: LMBRD1
Phenotype: Hypomethioninemia (HP:0003658)
Associated disease: Methylmalonic aciduria with homocystinuria, type cblF; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF; CblF defect; Lysosomal membrane cobalamin transporter deficiency; Cobalamin F defect; Methylmalonic acidemia with homocystinuria type cblF (ORPHA:79284)
Gene: LMBRD1
Phenotype: Elevated circulating propionylcarnitine concentration (HP:0033443)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE (OMIM:277380)
Gene: LMBRD1
Phenotype: Neonatal onset (HP:0003623)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE (OMIM:277380)
Gene: LMBRD1
Phenotype: Incoordination (HP:0002311)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE (OMIM:277380)
Gene: LMBRD1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE (OMIM:277380)
Gene: LMBRD1
Phenotype: Anemia (HP:0001903)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE (OMIM:277380)
Gene: LMBRD1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Methylmalonic aciduria with homocystinuria, type cblF; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF; CblF defect; Lysosomal membrane cobalamin transporter deficiency; Cobalamin F defect; Methylmalonic acidemia with homocystinuria type cblF (ORPHA:79284)
Gene: LMBRD1
Phenotype: Short stature (HP:0004322)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE (OMIM:277380)
Gene: LMBRD1
Phenotype: Childhood onset (HP:0011463)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE (OMIM:277380)
Gene: LMBRD1
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Methylmalonic aciduria with homocystinuria, type cblF; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF; CblF defect; Lysosomal membrane cobalamin transporter deficiency; Cobalamin F defect; Methylmalonic acidemia with homocystinuria type cblF (ORPHA:79284)
Gene: LMBRD1
Phenotype: Intraventricular hemorrhage (HP:0030746)
Associated disease: Methylmalonic aciduria with homocystinuria, type cblF; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF; CblF defect; Lysosomal membrane cobalamin transporter deficiency; Cobalamin F defect; Methylmalonic acidemia with homocystinuria type cblF (ORPHA:79284)
Gene: LMBRD1
Phenotype: Cystathioninuria (HP:0003153)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE (OMIM:277380)
Gene: LMBRD1
Phenotype: Decreased circulating adenosylcobalamin concentration (HP:0003145)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE (OMIM:277380)
Gene: LMBRD1
Phenotype: Decreased circulating adenosylcobalamin concentration (HP:0003145)
Associated disease: Methylmalonic aciduria with homocystinuria, type cblF; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF; CblF defect; Lysosomal membrane cobalamin transporter deficiency; Cobalamin F defect; Methylmalonic acidemia with homocystinuria type cblF (ORPHA:79284)
Gene: LMBRD1
Phenotype: Stomatitis (HP:0010280)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE (OMIM:277380)
Gene: LMBRD1
Phenotype: Stomatitis (HP:0010280)
Associated disease: Methylmalonic aciduria with homocystinuria, type cblF; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF; CblF defect; Lysosomal membrane cobalamin transporter deficiency; Cobalamin F defect; Methylmalonic acidemia with homocystinuria type cblF (ORPHA:79284)
Gene: LMBRD1
Phenotype: Decreased circulating methylcobalamin concentration (HP:0003223)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE (OMIM:277380)
Gene: LMBRD1
Phenotype: Decreased circulating methylcobalamin concentration (HP:0003223)
Associated disease: Methylmalonic aciduria with homocystinuria, type cblF; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF; CblF defect; Lysosomal membrane cobalamin transporter deficiency; Cobalamin F defect; Methylmalonic acidemia with homocystinuria type cblF (ORPHA:79284)
Gene: LMBRD1
Phenotype: Cystathioninemia (HP:0003286)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE (OMIM:277380)
Gene: LMBRD1
Phenotype: Skin rash (HP:0000988)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE (OMIM:277380)
Gene: LMBRD1
Phenotype: Skin rash (HP:0000988)
Associated disease: Methylmalonic aciduria with homocystinuria, type cblF; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF; CblF defect; Lysosomal membrane cobalamin transporter deficiency; Cobalamin F defect; Methylmalonic acidemia with homocystinuria type cblF (ORPHA:79284)
Gene: LMBRD1
Phenotype: Epicanthus (HP:0000286)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE (OMIM:277380)
Gene: LMBRD1
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE (OMIM:277380)
Gene: LMBRD1
Phenotype: High palate (HP:0000218)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE (OMIM:277380)
Gene: LMBRD1
Phenotype: Glossitis (HP:0000206)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE (OMIM:277380)
Gene: LMBRD1
Phenotype: Glossitis (HP:0000206)
Associated disease: Methylmalonic aciduria with homocystinuria, type cblF; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF; CblF defect; Lysosomal membrane cobalamin transporter deficiency; Cobalamin F defect; Methylmalonic acidemia with homocystinuria type cblF (ORPHA:79284)
Gene: LMBRD1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE (OMIM:277380)
Gene: LMBRD1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Methylmalonic aciduria with homocystinuria, type cblF; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF; CblF defect; Lysosomal membrane cobalamin transporter deficiency; Cobalamin F defect; Methylmalonic acidemia with homocystinuria type cblF (ORPHA:79284)
Gene: LMBRD1
Phenotype: Small for gestational age (HP:0001518)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE (OMIM:277380)
Gene: LMBRD1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Methylmalonic aciduria with homocystinuria, type cblF; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF; CblF defect; Lysosomal membrane cobalamin transporter deficiency; Cobalamin F defect; Methylmalonic acidemia with homocystinuria type cblF (ORPHA:79284)
Gene: LMBRD1
Phenotype: Growth delay (HP:0001510)
Associated disease: Methylmalonic aciduria with homocystinuria, type cblF; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF; CblF defect; Lysosomal membrane cobalamin transporter deficiency; Cobalamin F defect; Methylmalonic acidemia with homocystinuria type cblF (ORPHA:79284)
Gene: LMBRD1
Phenotype: Reduced number of intrahepatic bile ducts (HP:0006571)
Associated disease: Methylmalonic aciduria with homocystinuria, type cblF; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF; CblF defect; Lysosomal membrane cobalamin transporter deficiency; Cobalamin F defect; Methylmalonic acidemia with homocystinuria type cblF (ORPHA:79284)
Gene: LMBRD1
Phenotype: Methylmalonic acidemia (HP:0002912)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE (OMIM:277380)
Gene: LMBRD1
Phenotype: Low-set ears (HP:0000369)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE (OMIM:277380)
Gene: LMBRD1
Phenotype: Dextrocardia (HP:0001651)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE (OMIM:277380)
Gene: LMBRD1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE (OMIM:277380)
Gene: LMBRD1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Methylmalonic aciduria with homocystinuria, type cblF; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF; CblF defect; Lysosomal membrane cobalamin transporter deficiency; Cobalamin F defect; Methylmalonic acidemia with homocystinuria type cblF (ORPHA:79284)
Gene: LMBRD1
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE (OMIM:277380)
Gene: LMBRD1
Phenotype: Elevated circulating palmitoleylcarnitine concentration (HP:0031544)
Associated disease: Methylmalonic aciduria with homocystinuria, type cblF; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF; CblF defect; Lysosomal membrane cobalamin transporter deficiency; Cobalamin F defect; Methylmalonic acidemia with homocystinuria type cblF (ORPHA:79284)
Gene: LMBRD1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE (OMIM:277380)
Gene: LMBRD1
Phenotype: Megaloblastic anemia (HP:0001889)
Associated disease: Methylmalonic aciduria with homocystinuria, type cblF; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF; CblF defect; Lysosomal membrane cobalamin transporter deficiency; Cobalamin F defect; Methylmalonic acidemia with homocystinuria type cblF (ORPHA:79284)
Gene: LMBRD1
Phenotype: Megaloblastic anemia (HP:0001889)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE (OMIM:277380)
Gene: LMBRD1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE (OMIM:277380)
Gene: LMBRD1
Phenotype: Pancytopenia (HP:0001876)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE (OMIM:277380)
Gene: LMBRD1
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblF TYPE (OMIM:277380)
Gene: LMBRD1
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Methylmalonic aciduria with homocystinuria, type cblF; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF; CblF defect; Lysosomal membrane cobalamin transporter deficiency; Cobalamin F defect; Methylmalonic acidemia with homocystinuria type cblF (ORPHA:79284)
Gene: CSGALNACT1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE (OMIM:618870)
Gene: CSGALNACT1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Increased nuchal translucency (HP:0010880)
Associated disease: SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE (OMIM:618870)
Gene: CSGALNACT1
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Microtia (HP:0008551)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CSGALNACT1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: CSGALNACT1
Phenotype: Motor delay (HP:0001270)
Associated disease: SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE (OMIM:618870)
Gene: CSGALNACT1
Phenotype: Hypotonia (HP:0001252)
Associated disease: SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE (OMIM:618870)
Gene: CSGALNACT1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSGALNACT1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DBQD; Desbuquois dysplasia; Desbuquois syndrome (ORPHA:1425)
Gene: CSGALNACT1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CSGALNACT1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSGALNACT1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: CSGALNACT1
Phenotype: Short femoral neck (HP:0100864)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Multiple carpal ossification centers (HP:0006067)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Gene: CSGALNACT1
Phenotype: Multiple carpal ossification centers (HP:0006067)
Associated disease: LARSEN SYNDROME (OMIM:150250)
Gene: CSGALNACT1
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)