TaoMedAI/RareMedData huggingface dataset:
Gene: SMG9
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: HEART AND BRAIN MALFORMATION SYNDROME (OMIM:616920)
Gene: SMG9
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: HEART AND BRAIN MALFORMATION SYNDROME (OMIM:616920)
Gene: SMG9
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES (OMIM:619995)
Gene: SMG9
Phenotype: Congenital onset (HP:0003577)
Associated disease: HEART AND BRAIN MALFORMATION SYNDROME (OMIM:616920)
Gene: SMG9
Phenotype: Congenital onset (HP:0003577)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES (OMIM:619995)
Gene: SMG9
Phenotype: Global brain atrophy (HP:0002283)
Associated disease: HEART AND BRAIN MALFORMATION SYNDROME (OMIM:616920)
Gene: SMG9
Phenotype: Frequent falls (HP:0002359)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES (OMIM:619995)
Gene: SMG9
Phenotype: Low insertion of columella (HP:0010763)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES (OMIM:619995)
Gene: SMG9
Phenotype: Hyperactive deep tendon reflexes (HP:0006801)
Associated disease: HEART AND BRAIN MALFORMATION SYNDROME (OMIM:616920)
Gene: SMG9
Phenotype: Lower limb hypertonia (HP:0006895)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES (OMIM:619995)
Gene: SMG9
Phenotype: Short stature (HP:0004322)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES (OMIM:619995)
Gene: SMG9
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES (OMIM:619995)
Gene: SMG9
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES (OMIM:619995)
Gene: SMG9
Phenotype: Ankle clonus (HP:0011448)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES (OMIM:619995)
Gene: SMG9
Phenotype: Long nose (HP:0003189)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES (OMIM:619995)
Gene: SMG9
Phenotype: Interrupted aortic arch (HP:0011611)
Associated disease: HEART AND BRAIN MALFORMATION SYNDROME (OMIM:616920)
Gene: SMG9
Phenotype: Sacral dimple (HP:0000960)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES (OMIM:619995)
Gene: SMG9
Phenotype: Pes valgus (HP:0008081)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES (OMIM:619995)
Gene: SMG9
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: HEART AND BRAIN MALFORMATION SYNDROME (OMIM:616920)
Gene: SMG9
Phenotype: Prominent occiput (HP:0000269)
Associated disease: HEART AND BRAIN MALFORMATION SYNDROME (OMIM:616920)
Gene: SMG9
Phenotype: Microcephaly (HP:0000252)
Associated disease: HEART AND BRAIN MALFORMATION SYNDROME (OMIM:616920)
Gene: SMG9
Phenotype: Brachycephaly (HP:0000248)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES (OMIM:619995)
Gene: SMG9
Phenotype: High palate (HP:0000218)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES (OMIM:619995)
Gene: SMG9
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: HEART AND BRAIN MALFORMATION SYNDROME (OMIM:616920)
Gene: SMG9
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: HEART AND BRAIN MALFORMATION SYNDROME (OMIM:616920)
Gene: SMG9
Phenotype: Dextrotransposition of the great arteries (HP:0031348)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES (OMIM:619995)
Gene: SMG9
Phenotype: Growth delay (HP:0001510)
Associated disease: HEART AND BRAIN MALFORMATION SYNDROME (OMIM:616920)
Gene: SMG9
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: HEART AND BRAIN MALFORMATION SYNDROME (OMIM:616920)
Gene: SMG9
Phenotype: Low-set ears (HP:0000369)
Associated disease: HEART AND BRAIN MALFORMATION SYNDROME (OMIM:616920)
Gene: SMG9
Phenotype: Narrow forehead (HP:0000341)
Associated disease: HEART AND BRAIN MALFORMATION SYNDROME (OMIM:616920)
Gene: SMG9
Phenotype: Hypertelorism (HP:0000316)
Associated disease: HEART AND BRAIN MALFORMATION SYNDROME (OMIM:616920)
Gene: SMG9
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES (OMIM:619995)
Gene: SMG9
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: HEART AND BRAIN MALFORMATION SYNDROME (OMIM:616920)
Gene: SMG9
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES (OMIM:619995)
Gene: SMG9
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES (OMIM:619995)
Gene: SMG9
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: HEART AND BRAIN MALFORMATION SYNDROME (OMIM:616920)
Gene: SMG9
Phenotype: Strabismus (HP:0000486)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES (OMIM:619995)
Gene: SMG9
Phenotype: Anteverted nares (HP:0000463)
Associated disease: HEART AND BRAIN MALFORMATION SYNDROME (OMIM:616920)
Gene: SMG9
Phenotype: Brain atrophy (HP:0012444)
Associated disease: HEART AND BRAIN MALFORMATION SYNDROME (OMIM:616920)
Gene: SMG9
Phenotype: Broad nasal tip (HP:0000455)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES (OMIM:619995)
Gene: SMG9
Phenotype: Wide nose (HP:0000445)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES (OMIM:619995)
Gene: SMG9
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES (OMIM:619995)
Gene: SMG9
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: HEART AND BRAIN MALFORMATION SYNDROME (OMIM:616920)
Gene: SMG9
Phenotype: Prominent metopic ridge (HP:0005487)
Associated disease: HEART AND BRAIN MALFORMATION SYNDROME (OMIM:616920)
Gene: SMG9
Phenotype: Visual impairment (HP:0000505)
Associated disease: HEART AND BRAIN MALFORMATION SYNDROME (OMIM:616920)
Gene: SMG9
Phenotype: Prominent forehead (HP:0011220)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES (OMIM:619995)
Gene: SMG9
Phenotype: Prominent forehead (HP:0011220)
Associated disease: HEART AND BRAIN MALFORMATION SYNDROME (OMIM:616920)
Gene: SMG9
Phenotype: Microphthalmia (HP:0000568)
Associated disease: HEART AND BRAIN MALFORMATION SYNDROME (OMIM:616920)
Gene: ALG1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik (OMIM:608540)
Gene: ALG1
Phenotype: Sepsis (HP:0100806)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ik; Congenital disorder of glycosylation type 1k; CDG1K; Mannosyltransferase 1 deficiency; CDG syndrome type Ik; Congenital disorder of glycosylation type Ik; CDG-Ik; ALG1-CDG (ORPHA:79327)
Gene: ALG1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ik; Congenital disorder of glycosylation type 1k; CDG1K; Mannosyltransferase 1 deficiency; CDG syndrome type Ik; Congenital disorder of glycosylation type Ik; CDG-Ik; ALG1-CDG (ORPHA:79327)
Gene: ALG1
Phenotype: Areflexia (HP:0001284)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik (OMIM:608540)
Gene: ALG1
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ik; Congenital disorder of glycosylation type 1k; CDG1K; Mannosyltransferase 1 deficiency; CDG syndrome type Ik; Congenital disorder of glycosylation type Ik; CDG-Ik; ALG1-CDG (ORPHA:79327)
Gene: ALG1
Phenotype: Seizure (HP:0001250)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik (OMIM:608540)
Gene: ALG1
Phenotype: Seizure (HP:0001250)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ik; Congenital disorder of glycosylation type 1k; CDG1K; Mannosyltransferase 1 deficiency; CDG syndrome type Ik; Congenital disorder of glycosylation type Ik; CDG-Ik; ALG1-CDG (ORPHA:79327)
Gene: ALG1
Phenotype: Hypotonia (HP:0001252)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik (OMIM:608540)
Gene: ALG1
Phenotype: Hypotonia (HP:0001252)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ik; Congenital disorder of glycosylation type 1k; CDG1K; Mannosyltransferase 1 deficiency; CDG syndrome type Ik; Congenital disorder of glycosylation type Ik; CDG-Ik; ALG1-CDG (ORPHA:79327)
Gene: ALG1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ik; Congenital disorder of glycosylation type 1k; CDG1K; Mannosyltransferase 1 deficiency; CDG syndrome type Ik; Congenital disorder of glycosylation type Ik; CDG-Ik; ALG1-CDG (ORPHA:79327)
Gene: ALG1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik (OMIM:608540)
Gene: ALG1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ik; Congenital disorder of glycosylation type 1k; CDG1K; Mannosyltransferase 1 deficiency; CDG syndrome type Ik; Congenital disorder of glycosylation type Ik; CDG-Ik; ALG1-CDG (ORPHA:79327)
Gene: ALG1
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ik; Congenital disorder of glycosylation type 1k; CDG1K; Mannosyltransferase 1 deficiency; CDG syndrome type Ik; Congenital disorder of glycosylation type Ik; CDG-Ik; ALG1-CDG (ORPHA:79327)
Gene: ALG1
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ik; Congenital disorder of glycosylation type 1k; CDG1K; Mannosyltransferase 1 deficiency; CDG syndrome type Ik; Congenital disorder of glycosylation type Ik; CDG-Ik; ALG1-CDG (ORPHA:79327)
Gene: ALG1
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ik; Congenital disorder of glycosylation type 1k; CDG1K; Mannosyltransferase 1 deficiency; CDG syndrome type Ik; Congenital disorder of glycosylation type Ik; CDG-Ik; ALG1-CDG (ORPHA:79327)
Gene: ALG1
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ik; Congenital disorder of glycosylation type 1k; CDG1K; Mannosyltransferase 1 deficiency; CDG syndrome type Ik; Congenital disorder of glycosylation type Ik; CDG-Ik; ALG1-CDG (ORPHA:79327)
Gene: ALG1
Phenotype: Flexion contracture (HP:0001371)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik (OMIM:608540)
Gene: ALG1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik (OMIM:608540)
Gene: ALG1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ik; Congenital disorder of glycosylation type 1k; CDG1K; Mannosyltransferase 1 deficiency; CDG syndrome type Ik; Congenital disorder of glycosylation type Ik; CDG-Ik; ALG1-CDG (ORPHA:79327)
Gene: ALG1
Phenotype: Hypogonadism (HP:0000135)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik (OMIM:608540)
Gene: ALG1
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ik; Congenital disorder of glycosylation type 1k; CDG1K; Mannosyltransferase 1 deficiency; CDG syndrome type Ik; Congenital disorder of glycosylation type Ik; CDG-Ik; ALG1-CDG (ORPHA:79327)
Gene: ALG1
Phenotype: Decreased liver function (HP:0001410)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ik; Congenital disorder of glycosylation type 1k; CDG1K; Mannosyltransferase 1 deficiency; CDG syndrome type Ik; Congenital disorder of glycosylation type Ik; CDG-Ik; ALG1-CDG (ORPHA:79327)
Gene: ALG1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ik; Congenital disorder of glycosylation type 1k; CDG1K; Mannosyltransferase 1 deficiency; CDG syndrome type Ik; Congenital disorder of glycosylation type Ik; CDG-Ik; ALG1-CDG (ORPHA:79327)
Gene: ALG1
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ik; Congenital disorder of glycosylation type 1k; CDG1K; Mannosyltransferase 1 deficiency; CDG syndrome type Ik; Congenital disorder of glycosylation type Ik; CDG-Ik; ALG1-CDG (ORPHA:79327)
Gene: ALG1
Phenotype: Chronic diarrhea (HP:0002028)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ik; Congenital disorder of glycosylation type 1k; CDG1K; Mannosyltransferase 1 deficiency; CDG syndrome type Ik; Congenital disorder of glycosylation type Ik; CDG-Ik; ALG1-CDG (ORPHA:79327)
Gene: ALG1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ik; Congenital disorder of glycosylation type 1k; CDG1K; Mannosyltransferase 1 deficiency; CDG syndrome type Ik; Congenital disorder of glycosylation type Ik; CDG-Ik; ALG1-CDG (ORPHA:79327)
Gene: ALG1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik (OMIM:608540)
Gene: ALG1
Phenotype: Protein-losing enteropathy (HP:0002243)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ik; Congenital disorder of glycosylation type 1k; CDG1K; Mannosyltransferase 1 deficiency; CDG syndrome type Ik; Congenital disorder of glycosylation type Ik; CDG-Ik; ALG1-CDG (ORPHA:79327)
Gene: ALG1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik (OMIM:608540)
Gene: ALG1
Phenotype: Multifocal epileptiform discharges (HP:0010841)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik (OMIM:608540)
Gene: ALG1
Phenotype: Type I transferrin isoform profile (HP:0003642)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik (OMIM:608540)
Gene: ALG1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ik; Congenital disorder of glycosylation type 1k; CDG1K; Mannosyltransferase 1 deficiency; CDG syndrome type Ik; Congenital disorder of glycosylation type Ik; CDG-Ik; ALG1-CDG (ORPHA:79327)
Gene: ALG1
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ik; Congenital disorder of glycosylation type 1k; CDG1K; Mannosyltransferase 1 deficiency; CDG syndrome type Ik; Congenital disorder of glycosylation type Ik; CDG-Ik; ALG1-CDG (ORPHA:79327)
Gene: ALG1
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ik; Congenital disorder of glycosylation type 1k; CDG1K; Mannosyltransferase 1 deficiency; CDG syndrome type Ik; Congenital disorder of glycosylation type Ik; CDG-Ik; ALG1-CDG (ORPHA:79327)
Gene: ALG1
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ik; Congenital disorder of glycosylation type 1k; CDG1K; Mannosyltransferase 1 deficiency; CDG syndrome type Ik; Congenital disorder of glycosylation type Ik; CDG-Ik; ALG1-CDG (ORPHA:79327)
Gene: ALG1
Phenotype: Third trimester onset (HP:0034197)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik (OMIM:608540)
Gene: ALG1
Phenotype: Abnormality of the skeletal system (HP:0000924)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ik; Congenital disorder of glycosylation type 1k; CDG1K; Mannosyltransferase 1 deficiency; CDG syndrome type Ik; Congenital disorder of glycosylation type Ik; CDG-Ik; ALG1-CDG (ORPHA:79327)
Gene: ALG1
Phenotype: Joint contracture (HP:0034392)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik (OMIM:608540)
Gene: ALG1
Phenotype: Kyphosis (HP:0002808)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ik; Congenital disorder of glycosylation type 1k; CDG1K; Mannosyltransferase 1 deficiency; CDG syndrome type Ik; Congenital disorder of glycosylation type Ik; CDG-Ik; ALG1-CDG (ORPHA:79327)
Gene: ALG1
Phenotype: Large fontanelles (HP:0000239)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik (OMIM:608540)
Gene: ALG1
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ik; Congenital disorder of glycosylation type 1k; CDG1K; Mannosyltransferase 1 deficiency; CDG syndrome type Ik; Congenital disorder of glycosylation type Ik; CDG-Ik; ALG1-CDG (ORPHA:79327)
Gene: ALG1
Phenotype: Microcephaly (HP:0000252)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik (OMIM:608540)
Gene: ALG1
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ik; Congenital disorder of glycosylation type 1k; CDG1K; Mannosyltransferase 1 deficiency; CDG syndrome type Ik; Congenital disorder of glycosylation type Ik; CDG-Ik; ALG1-CDG (ORPHA:79327)
Gene: ALG1
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik (OMIM:608540)
Gene: ALG1
Phenotype: Abnormality of the amniotic fluid (HP:0001560)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik (OMIM:608540)
Gene: ALG1
Phenotype: Death in infancy (HP:0001522)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik (OMIM:608540)
Gene: ALG1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik (OMIM:608540)
Gene: ALG1
Phenotype: Abnormality of the gastrointestinal tract (HP:0011024)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ik; Congenital disorder of glycosylation type 1k; CDG1K; Mannosyltransferase 1 deficiency; CDG syndrome type Ik; Congenital disorder of glycosylation type Ik; CDG-Ik; ALG1-CDG (ORPHA:79327)
Gene: ALG1
Phenotype: Micrognathia (HP:0000347)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik (OMIM:608540)
Gene: ALG1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik (OMIM:608540)
Gene: ALG1
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ik; Congenital disorder of glycosylation type 1k; CDG1K; Mannosyltransferase 1 deficiency; CDG syndrome type Ik; Congenital disorder of glycosylation type Ik; CDG-Ik; ALG1-CDG (ORPHA:79327)
Gene: ALG1
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ik; Congenital disorder of glycosylation type 1k; CDG1K; Mannosyltransferase 1 deficiency; CDG syndrome type Ik; Congenital disorder of glycosylation type Ik; CDG-Ik; ALG1-CDG (ORPHA:79327)
Gene: ALG1
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik (OMIM:608540)
Gene: ALG1
Phenotype: Strabismus (HP:0000486)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ik; Congenital disorder of glycosylation type 1k; CDG1K; Mannosyltransferase 1 deficiency; CDG syndrome type Ik; Congenital disorder of glycosylation type Ik; CDG-Ik; ALG1-CDG (ORPHA:79327)
Gene: ALG1
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ik; Congenital disorder of glycosylation type 1k; CDG1K; Mannosyltransferase 1 deficiency; CDG syndrome type Ik; Congenital disorder of glycosylation type Ik; CDG-Ik; ALG1-CDG (ORPHA:79327)
Gene: ALG1
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik (OMIM:608540)
Gene: ALG1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ik (OMIM:608540)
Gene: ALG1
Phenotype: Abnormality of blood and blood-forming tissues (HP:0001871)
Associated disease: Carbohydrate deficient glycoprotein syndrome type Ik; Congenital disorder of glycosylation type 1k; CDG1K; Mannosyltransferase 1 deficiency; CDG syndrome type Ik; Congenital disorder of glycosylation type Ik; CDG-Ik; ALG1-CDG (ORPHA:79327)
Gene: PCDHGC4
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES (OMIM:619880)
Gene: PCDHGC4
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES (OMIM:619880)
Gene: PCDHGC4
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES (OMIM:619880)
Gene: PCDHGC4
Phenotype: Ulnar deviated club hands (HP:0006055)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES (OMIM:619880)
Gene: PCDHGC4
Phenotype: Swan neck-like deformities of the fingers (HP:0006150)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES (OMIM:619880)
Gene: PCDHGC4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES (OMIM:619880)
Gene: PCDHGC4
Phenotype: High, narrow palate (HP:0002705)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES (OMIM:619880)
Gene: PCDHGC4
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES (OMIM:619880)
Gene: PCDHGC4
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES (OMIM:619880)
Gene: PCDHGC4
Phenotype: Congenital onset (HP:0003577)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES (OMIM:619880)
Gene: PCDHGC4
Phenotype: Low hanging columella (HP:0009765)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES (OMIM:619880)
Gene: PCDHGC4
Phenotype: Neonatal onset (HP:0003623)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES (OMIM:619880)
Gene: PCDHGC4
Phenotype: Metopic synostosis (HP:0011330)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES (OMIM:619880)
Gene: PCDHGC4
Phenotype: Broad thumb (HP:0011304)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES (OMIM:619880)
Gene: PCDHGC4
Phenotype: Synophrys (HP:0000664)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES (OMIM:619880)
Gene: PCDHGC4
Phenotype: Epicanthus (HP:0000286)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES (OMIM:619880)
Gene: PCDHGC4
Phenotype: Long face (HP:0000276)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES (OMIM:619880)
Gene: PCDHGC4
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES (OMIM:619880)
Gene: PCDHGC4
Phenotype: Clinodactyly (HP:0030084)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES (OMIM:619880)
Gene: PCDHGC4
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH POOR GROWTH AND SKELETAL ANOMALIES (OMIM:619880)