TaoMedAI/RareMedData huggingface dataset:
Gene: ALG8
Phenotype: Reduced factor XI activity (HP:0001929)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih (OMIM:608104)
Gene: ALG8
Phenotype: Reduced factor XI activity (HP:0001929)
Associated disease: ALG8-CDG; Congenital disorder of glycosylation type 1h; Congenital disorder of glycosylation type Ih; Carbohydrate deficient glycoprotein syndrome type Ih; CDG-Ih; Glucosyltransferase 2 deficiency; CDG syndrome type Ih; CDG1H (ORPHA:79325)
Gene: ALG8
Phenotype: Anemia (HP:0001903)
Associated disease: ALG8-CDG; Congenital disorder of glycosylation type 1h; Congenital disorder of glycosylation type Ih; Carbohydrate deficient glycoprotein syndrome type Ih; CDG-Ih; Glucosyltransferase 2 deficiency; CDG syndrome type Ih; CDG1H (ORPHA:79325)
Gene: ALG8
Phenotype: Anemia (HP:0001903)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih (OMIM:608104)
Gene: ALG8
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: ALG8-CDG; Congenital disorder of glycosylation type 1h; Congenital disorder of glycosylation type Ih; Carbohydrate deficient glycoprotein syndrome type Ih; CDG-Ih; Glucosyltransferase 2 deficiency; CDG syndrome type Ih; CDG1H (ORPHA:79325)
Gene: ALG8
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih (OMIM:608104)
Gene: ALG8
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: ALG8-CDG; Congenital disorder of glycosylation type 1h; Congenital disorder of glycosylation type Ih; Carbohydrate deficient glycoprotein syndrome type Ih; CDG-Ih; Glucosyltransferase 2 deficiency; CDG syndrome type Ih; CDG1H (ORPHA:79325)
Gene: ALG8
Phenotype: Fetal onset (HP:0011461)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih (OMIM:608104)
Gene: ALG8
Phenotype: Inverted nipples (HP:0003186)
Associated disease: ALG8-CDG; Congenital disorder of glycosylation type 1h; Congenital disorder of glycosylation type Ih; Carbohydrate deficient glycoprotein syndrome type Ih; CDG-Ih; Glucosyltransferase 2 deficiency; CDG syndrome type Ih; CDG1H (ORPHA:79325)
Gene: ALG8
Phenotype: Elevated circulating alkaline phosphatase concentration (HP:0003155)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: ALG8
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih (OMIM:608104)
Gene: ALG8
Phenotype: Abdominal distention (HP:0003270)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih (OMIM:608104)
Gene: ALG8
Phenotype: Abdominal distention (HP:0003270)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: ALG8
Phenotype: Abnormality of the coagulation cascade (HP:0003256)
Associated disease: ALG8-CDG; Congenital disorder of glycosylation type 1h; Congenital disorder of glycosylation type Ih; Carbohydrate deficient glycoprotein syndrome type Ih; CDG-Ih; Glucosyltransferase 2 deficiency; CDG syndrome type Ih; CDG1H (ORPHA:79325)
Gene: ALG8
Phenotype: Elevated circulating creatinine concentration (HP:0003259)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih (OMIM:608104)
Gene: ALG8
Phenotype: Cutis laxa (HP:0000973)
Associated disease: ALG8-CDG; Congenital disorder of glycosylation type 1h; Congenital disorder of glycosylation type Ih; Carbohydrate deficient glycoprotein syndrome type Ih; CDG-Ih; Glucosyltransferase 2 deficiency; CDG syndrome type Ih; CDG1H (ORPHA:79325)
Gene: ALG8
Phenotype: Jaundice (HP:0000952)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: ALG8
Phenotype: Edema (HP:0000969)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih (OMIM:608104)
Gene: ALG8
Phenotype: Edema (HP:0000969)
Associated disease: ALG8-CDG; Congenital disorder of glycosylation type 1h; Congenital disorder of glycosylation type Ih; Carbohydrate deficient glycoprotein syndrome type Ih; CDG-Ih; Glucosyltransferase 2 deficiency; CDG syndrome type Ih; CDG1H (ORPHA:79325)
Gene: ALG8
Phenotype: Perimembranous ventricular septal defect (HP:0011682)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih (OMIM:608104)
Gene: ALG8
Phenotype: Large fontanelles (HP:0000239)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih (OMIM:608104)
Gene: ALG8
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih (OMIM:608104)
Gene: ALG8
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: ALG8-CDG; Congenital disorder of glycosylation type 1h; Congenital disorder of glycosylation type Ih; Carbohydrate deficient glycoprotein syndrome type Ih; CDG-Ih; Glucosyltransferase 2 deficiency; CDG syndrome type Ih; CDG1H (ORPHA:79325)
Gene: ALG8
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih (OMIM:608104)
Gene: ALG8
Phenotype: Death in infancy (HP:0001522)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih (OMIM:608104)
Gene: ALG8
Phenotype: Ascites (HP:0001541)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih (OMIM:608104)
Gene: ALG8
Phenotype: Ascites (HP:0001541)
Associated disease: ALG8-CDG; Congenital disorder of glycosylation type 1h; Congenital disorder of glycosylation type Ih; Carbohydrate deficient glycoprotein syndrome type Ih; CDG-Ih; Glucosyltransferase 2 deficiency; CDG syndrome type Ih; CDG1H (ORPHA:79325)
Gene: ALG8
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih (OMIM:608104)
Gene: ALG8
Phenotype: Failure to thrive (HP:0001508)
Associated disease: ALG8-CDG; Congenital disorder of glycosylation type 1h; Congenital disorder of glycosylation type Ih; Carbohydrate deficient glycoprotein syndrome type Ih; CDG-Ih; Glucosyltransferase 2 deficiency; CDG syndrome type Ih; CDG1H (ORPHA:79325)
Gene: ALG8
Phenotype: Small for gestational age (HP:0001518)
Associated disease: ALG8-CDG; Congenital disorder of glycosylation type 1h; Congenital disorder of glycosylation type Ih; Carbohydrate deficient glycoprotein syndrome type Ih; CDG-Ih; Glucosyltransferase 2 deficiency; CDG syndrome type Ih; CDG1H (ORPHA:79325)
Gene: ALG8
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: ALG8-CDG; Congenital disorder of glycosylation type 1h; Congenital disorder of glycosylation type Ih; Carbohydrate deficient glycoprotein syndrome type Ih; CDG-Ih; Glucosyltransferase 2 deficiency; CDG syndrome type Ih; CDG1H (ORPHA:79325)
Gene: ALG8
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih (OMIM:608104)
Gene: ALG8
Phenotype: Decreased circulating T4 concentration (HP:0031507)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih (OMIM:608104)
Gene: ALG8
Phenotype: Camptodactyly (HP:0012385)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih (OMIM:608104)
Gene: ALG8
Phenotype: Camptodactyly (HP:0012385)
Associated disease: ALG8-CDG; Congenital disorder of glycosylation type 1h; Congenital disorder of glycosylation type Ih; Carbohydrate deficient glycoprotein syndrome type Ih; CDG-Ih; Glucosyltransferase 2 deficiency; CDG syndrome type Ih; CDG1H (ORPHA:79325)
Gene: ALG8
Phenotype: Polycystic liver disease (HP:0006557)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: ALG8
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: ALG8-CDG; Congenital disorder of glycosylation type 1h; Congenital disorder of glycosylation type Ih; Carbohydrate deficient glycoprotein syndrome type Ih; CDG-Ih; Glucosyltransferase 2 deficiency; CDG syndrome type Ih; CDG1H (ORPHA:79325)
Gene: ALG8
Phenotype: Hyponatremia (HP:0002902)
Associated disease: ALG8-CDG; Congenital disorder of glycosylation type 1h; Congenital disorder of glycosylation type Ih; Carbohydrate deficient glycoprotein syndrome type Ih; CDG-Ih; Glucosyltransferase 2 deficiency; CDG syndrome type Ih; CDG1H (ORPHA:79325)
Gene: ALG8
Phenotype: Abnormality of the gastrointestinal tract (HP:0011024)
Associated disease: ALG8-CDG; Congenital disorder of glycosylation type 1h; Congenital disorder of glycosylation type Ih; Carbohydrate deficient glycoprotein syndrome type Ih; CDG-Ih; Glucosyltransferase 2 deficiency; CDG syndrome type Ih; CDG1H (ORPHA:79325)
Gene: ALG8
Phenotype: Low-set ears (HP:0000369)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih (OMIM:608104)
Gene: ALG8
Phenotype: Low-set ears (HP:0000369)
Associated disease: ALG8-CDG; Congenital disorder of glycosylation type 1h; Congenital disorder of glycosylation type Ih; Carbohydrate deficient glycoprotein syndrome type Ih; CDG-Ih; Glucosyltransferase 2 deficiency; CDG syndrome type Ih; CDG1H (ORPHA:79325)
Gene: ALG8
Phenotype: Long philtrum (HP:0000343)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih (OMIM:608104)
Gene: ALG8
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih (OMIM:608104)
Gene: ALG8
Phenotype: Hypertelorism (HP:0000316)
Associated disease: ALG8-CDG; Congenital disorder of glycosylation type 1h; Congenital disorder of glycosylation type Ih; Carbohydrate deficient glycoprotein syndrome type Ih; CDG-Ih; Glucosyltransferase 2 deficiency; CDG syndrome type Ih; CDG1H (ORPHA:79325)
Gene: ALG8
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih (OMIM:608104)
Gene: ALG8
Phenotype: Abnormal heart valve morphology (HP:0001654)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: ALG8
Phenotype: Premature birth (HP:0001622)
Associated disease: ALG8-CDG; Congenital disorder of glycosylation type 1h; Congenital disorder of glycosylation type Ih; Carbohydrate deficient glycoprotein syndrome type Ih; CDG-Ih; Glucosyltransferase 2 deficiency; CDG syndrome type Ih; CDG1H (ORPHA:79325)
Gene: ALG8
Phenotype: Abnormality of the pancreas (HP:0001732)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: ALG8
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: ALG8-CDG; Congenital disorder of glycosylation type 1h; Congenital disorder of glycosylation type Ih; Carbohydrate deficient glycoprotein syndrome type Ih; CDG-Ih; Glucosyltransferase 2 deficiency; CDG syndrome type Ih; CDG1H (ORPHA:79325)
Gene: ALG8
Phenotype: Retinopathy (HP:0000488)
Associated disease: ALG8-CDG; Congenital disorder of glycosylation type 1h; Congenital disorder of glycosylation type Ih; Carbohydrate deficient glycoprotein syndrome type Ih; CDG-Ih; Glucosyltransferase 2 deficiency; CDG syndrome type Ih; CDG1H (ORPHA:79325)
Gene: ALG8
Phenotype: Abnormal skin morphology (HP:0011121)
Associated disease: ALG8-CDG; Congenital disorder of glycosylation type 1h; Congenital disorder of glycosylation type Ih; Carbohydrate deficient glycoprotein syndrome type Ih; CDG-Ih; Glucosyltransferase 2 deficiency; CDG syndrome type Ih; CDG1H (ORPHA:79325)
Gene: ALG8
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: ALG8-CDG; Congenital disorder of glycosylation type 1h; Congenital disorder of glycosylation type Ih; Carbohydrate deficient glycoprotein syndrome type Ih; CDG-Ih; Glucosyltransferase 2 deficiency; CDG syndrome type Ih; CDG1H (ORPHA:79325)
Gene: ALG8
Phenotype: Short neck (HP:0000470)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih (OMIM:608104)
Gene: ALG8
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: ALG8-CDG; Congenital disorder of glycosylation type 1h; Congenital disorder of glycosylation type Ih; Carbohydrate deficient glycoprotein syndrome type Ih; CDG-Ih; Glucosyltransferase 2 deficiency; CDG syndrome type Ih; CDG1H (ORPHA:79325)
Gene: ALG8
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih (OMIM:608104)
Gene: ALG8
Phenotype: Cataract (HP:0000518)
Associated disease: ALG8-CDG; Congenital disorder of glycosylation type 1h; Congenital disorder of glycosylation type Ih; Carbohydrate deficient glycoprotein syndrome type Ih; CDG-Ih; Glucosyltransferase 2 deficiency; CDG syndrome type Ih; CDG1H (ORPHA:79325)
Gene: ALG8
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: ALG8-CDG; Congenital disorder of glycosylation type 1h; Congenital disorder of glycosylation type Ih; Carbohydrate deficient glycoprotein syndrome type Ih; CDG-Ih; Glucosyltransferase 2 deficiency; CDG syndrome type Ih; CDG1H (ORPHA:79325)
Gene: ALG8
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih (OMIM:608104)
Gene: ASPSCR1
Phenotype: Typified by somatic mosaicism (HP:0001442)
Associated disease: ALVEOLAR SOFT PART SARCOMA (OMIM:606243)
Gene: ASPSCR1
Phenotype: Alveolar soft part sarcoma (HP:0012218)
Associated disease: ALVEOLAR SOFT PART SARCOMA (OMIM:606243)
Gene: FTO
Phenotype: Brachydactyly (HP:0001156)
Associated disease: GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM (OMIM:612938)
Gene: FTO
Phenotype: Hypertonia (HP:0001276)
Associated disease: GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM (OMIM:612938)
Gene: FTO
Phenotype: Seizure (HP:0001250)
Associated disease: GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM (OMIM:612938)
Gene: FTO
Phenotype: Death in childhood (HP:0003819)
Associated disease: GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM (OMIM:612938)
Gene: FTO
Phenotype: Skull asymmetry (HP:0002678)
Associated disease: GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM (OMIM:612938)
Gene: FTO
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM (OMIM:612938)
Gene: FTO
Phenotype: Drumstick terminal phalanges (HP:0006129)
Associated disease: GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM (OMIM:612938)
Gene: FTO
Phenotype: Lissencephaly (HP:0001339)
Associated disease: GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM (OMIM:612938)
Gene: FTO
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM (OMIM:612938)
Gene: FTO
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM (OMIM:612938)
Gene: FTO
Phenotype: Bifid uvula (HP:0000193)
Associated disease: GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM (OMIM:612938)
Gene: FTO
Phenotype: Cleft palate (HP:0000175)
Associated disease: GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM (OMIM:612938)
Gene: FTO
Phenotype: Congenital onset (HP:0003577)
Associated disease: GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM (OMIM:612938)
Gene: FTO
Phenotype: Protruding tongue (HP:0010808)
Associated disease: GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM (OMIM:612938)
Gene: FTO
Phenotype: Alveolar ridge overgrowth (HP:0009085)
Associated disease: GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM (OMIM:612938)
Gene: FTO
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM (OMIM:612938)
Gene: FTO
Phenotype: Fetal onset (HP:0011461)
Associated disease: GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM (OMIM:612938)
Gene: FTO
Phenotype: Cutis marmorata (HP:0000965)
Associated disease: GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM (OMIM:612938)
Gene: FTO
Phenotype: Coarse facial features (HP:0000280)
Associated disease: GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM (OMIM:612938)
Gene: FTO
Phenotype: Retrognathia (HP:0000278)
Associated disease: GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM (OMIM:612938)
Gene: FTO
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM (OMIM:612938)
Gene: FTO
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM (OMIM:612938)
Gene: FTO
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM (OMIM:612938)
Gene: FTO
Phenotype: Failure to thrive (HP:0001508)
Associated disease: GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM (OMIM:612938)
Gene: FTO
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM (OMIM:612938)
Gene: FTO
Phenotype: Weak cry (HP:0001612)
Associated disease: GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM (OMIM:612938)
Gene: FTO
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM (OMIM:612938)
Gene: FTO
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM (OMIM:612938)
Gene: FTO
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM (OMIM:612938)
Gene: FTO
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM (OMIM:612938)
Gene: FTO
Phenotype: Anteverted nares (HP:0000463)
Associated disease: GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM (OMIM:612938)
Gene: FTO
Phenotype: Brain atrophy (HP:0012444)
Associated disease: GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM (OMIM:612938)
Gene: FTO
Phenotype: Short neck (HP:0000470)
Associated disease: GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM (OMIM:612938)
Gene: FTO
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM (OMIM:612938)
Gene: FTO
Phenotype: Hypoplastic toenails (HP:0001800)
Associated disease: GROWTH RETARDATION, DEVELOPMENTAL DELAY, AND FACIAL DYSMORPHISM (OMIM:612938)
Gene: MLPH
Phenotype: Partial albinism (HP:0007443)
Associated disease: Griscelli-Pruniéras syndrome type 3; Griscelli syndrome type 3 (ORPHA:79478)
Gene: MLPH
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GRISCELLI SYNDROME, TYPE 3 (OMIM:609227)
Gene: MLPH
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: GRISCELLI SYNDROME, TYPE 3 (OMIM:609227)
Gene: MLPH
Phenotype: Silver-gray hair (HP:0002218)
Associated disease: GRISCELLI SYNDROME, TYPE 3 (OMIM:609227)
Gene: MLPH
Phenotype: White eyelashes (HP:0002227)
Associated disease: GRISCELLI SYNDROME, TYPE 3 (OMIM:609227)
Gene: MLPH
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: Griscelli-Pruniéras syndrome type 3; Griscelli syndrome type 3 (ORPHA:79478)
Gene: MLPH
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: GRISCELLI SYNDROME, TYPE 3 (OMIM:609227)
Gene: MLPH
Phenotype: Childhood onset (HP:0011463)
Associated disease: GRISCELLI SYNDROME, TYPE 3 (OMIM:609227)
Gene: MLPH
Phenotype: Large clumps of pigment irregularly distributed along hair shaft (HP:0004527)
Associated disease: GRISCELLI SYNDROME, TYPE 3 (OMIM:609227)
Gene: MLPH
Phenotype: Iris hypopigmentation (HP:0007730)
Associated disease: Griscelli-Pruniéras syndrome type 3; Griscelli syndrome type 3 (ORPHA:79478)
Gene: ALG12
Phenotype: Abnormal circulating IgG concentration (HP:0410242)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Abnormal circulating IgM concentration (HP:0410243)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Abnormal circulating IgA concentration (HP:0410240)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG12
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: ALG12
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig (OMIM:607143)
Gene: ALG12
Phenotype: Sepsis (HP:0100806)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Long fingers (HP:0100807)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Lethargy (HP:0001254)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig (OMIM:607143)
Gene: ALG12
Phenotype: Seizure (HP:0001250)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Hypotonia (HP:0001252)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig (OMIM:607143)
Gene: ALG12
Phenotype: Hypotonia (HP:0001252)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG12
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)
Gene: ALG12
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG12
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ig (OMIM:607143)
Gene: ALG12
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: ALG12
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: CDG syndrome type Ig; Congenital disorder of glycosylation type 1g; CDG1G; Congenital disorder of glycosylation type Ig; CDG-Ig; ALG12-CDG; Carbohydrate deficient glycoprotein syndrome type Ig; Mannosyltransferase 8 deficiency (ORPHA:79324)