TaoMedAI/RareMedData huggingface dataset:
Gene: AFG2B
Phenotype: Microcephaly (HP:0000252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY (OMIM:619616)
Gene: AFG2B
Phenotype: High palate (HP:0000218)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY (OMIM:619616)
Gene: AFG2B
Phenotype: Thick upper lip vermilion (HP:0000215)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY (OMIM:619616)
Gene: AFG2B
Phenotype: Spastic hemiparesis (HP:0011099)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY (OMIM:619616)
Gene: AFG2B
Phenotype: Narrow forehead (HP:0000341)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY (OMIM:619616)
Gene: AFG2B
Phenotype: Micrognathia (HP:0000347)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY (OMIM:619616)
Gene: AFG2B
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY (OMIM:619616)
Gene: AFG2B
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 119 (OMIM:619615)
Gene: AFG2B
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY (OMIM:619616)
Gene: AFG2B
Phenotype: Infantile spasms (HP:0012469)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY (OMIM:619616)
Gene: AFG2B
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY (OMIM:619616)
Gene: AFG2B
Phenotype: Telecanthus (HP:0000506)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY (OMIM:619616)
Gene: TSEN34
Phenotype: Bilateral tonic-clonic seizure with generalized onset (HP:0025190)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN34
Phenotype: Motor delay (HP:0001270)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN34
Phenotype: Seizure (HP:0001250)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN34
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN34
Phenotype: Spasticity (HP:0001257)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN34
Phenotype: Abnormal cortical gyration (HP:0002536)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN34
Phenotype: Impaired oropharyngeal swallow response (HP:0031162)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN34
Phenotype: Dystonia (HP:0001332)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2C (OMIM:612390)
Gene: TSEN34
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2C (OMIM:612390)
Gene: TSEN34
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2C (OMIM:612390)
Gene: TSEN34
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN34
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN34
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN34
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN34
Phenotype: Bilateral single transverse palmar creases (HP:0007598)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN34
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN34
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN34
Phenotype: Poor suck (HP:0002033)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN34
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN34
Phenotype: Chorea (HP:0002072)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2C (OMIM:612390)
Gene: TSEN34
Phenotype: Babinski sign (HP:0003487)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN34
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN34
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN34
Phenotype: Apnea (HP:0002104)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN34
Phenotype: Paroxysmal dystonia (HP:0002268)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN34
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN34
Phenotype: Viral infection-induced rhabdomyolysis (HP:0003558)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN34
Phenotype: Oral-pharyngeal dysphagia (HP:0200136)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN34
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN34
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN34
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN34
Phenotype: Cerebellar cyst (HP:0002350)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN34
Phenotype: Upper limb hypertonia (HP:0200049)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN34
Phenotype: Hypoplasia of the ventral pons (HP:0006850)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN34
Phenotype: Lower limb hypertonia (HP:0006895)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN34
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN34
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN34
Phenotype: Dysplastic corpus callosum (HP:0006989)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN34
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN34
Phenotype: Widened cerebellar subarachnoid space (HP:0012765)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN34
Phenotype: Cerebellar hemisphere hypoplasia (HP:0100307)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2C (OMIM:612390)
Gene: TSEN34
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN34
Phenotype: Microcephaly (HP:0000252)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2C (OMIM:612390)
Gene: TSEN34
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN34
Phenotype: Simple febrile seizure (HP:0011171)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN34
Phenotype: Infantile spasms (HP:0012469)
Associated disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Gene: TSEN34
Phenotype: Visual impairment (HP:0000505)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2C (OMIM:612390)
Gene: SECISBP2
Phenotype: Decreased circulating free T3 (HP:0032210)
Associated disease: Short stature-delayed bone age due to thyroid hormone metabolism deficiency (ORPHA:171706)
Gene: SECISBP2
Phenotype: Decreased circulating free T3 (HP:0032210)
Associated disease: THYROID HORMONE METABOLISM, ABNORMAL (OMIM:609698)
Gene: SECISBP2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Short stature-delayed bone age due to thyroid hormone metabolism deficiency (ORPHA:171706)
Gene: SECISBP2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: THYROID HORMONE METABOLISM, ABNORMAL (OMIM:609698)
Gene: SECISBP2
Phenotype: Proximal muscle weakness in lower limbs (HP:0008994)
Associated disease: Short stature-delayed bone age due to thyroid hormone metabolism deficiency (ORPHA:171706)
Gene: SECISBP2
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Short stature-delayed bone age due to thyroid hormone metabolism deficiency (ORPHA:171706)
Gene: SECISBP2
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: THYROID HORMONE METABOLISM, ABNORMAL (OMIM:609698)
Gene: SECISBP2
Phenotype: Gowers sign (HP:0003391)
Associated disease: Short stature-delayed bone age due to thyroid hormone metabolism deficiency (ORPHA:171706)
Gene: SECISBP2
Phenotype: Neonatal onset (HP:0003623)
Associated disease: THYROID HORMONE METABOLISM, ABNORMAL (OMIM:609698)
Gene: SECISBP2
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: Short stature-delayed bone age due to thyroid hormone metabolism deficiency (ORPHA:171706)
Gene: SECISBP2
Phenotype: Short stature (HP:0004322)
Associated disease: Short stature-delayed bone age due to thyroid hormone metabolism deficiency (ORPHA:171706)
Gene: SECISBP2
Phenotype: Short stature (HP:0004322)
Associated disease: THYROID HORMONE METABOLISM, ABNORMAL (OMIM:609698)
Gene: SECISBP2
Phenotype: Abnormal circulating selenium concentration (HP:0031903)
Associated disease: Short stature-delayed bone age due to thyroid hormone metabolism deficiency (ORPHA:171706)
Gene: SECISBP2
Phenotype: Short attention span (HP:0000736)
Associated disease: Short stature-delayed bone age due to thyroid hormone metabolism deficiency (ORPHA:171706)
Gene: SECISBP2
Phenotype: Fasting hypoglycemia (HP:0003162)
Associated disease: Short stature-delayed bone age due to thyroid hormone metabolism deficiency (ORPHA:171706)
Gene: SECISBP2
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: THYROID HORMONE METABOLISM, ABNORMAL (OMIM:609698)
Gene: SECISBP2
Phenotype: Abnormal circulating insulin concentration (HP:0040214)
Associated disease: Short stature-delayed bone age due to thyroid hormone metabolism deficiency (ORPHA:171706)
Gene: SECISBP2
Phenotype: Increased circulating free T4 concentration (HP:0033077)
Associated disease: THYROID HORMONE METABOLISM, ABNORMAL (OMIM:609698)
Gene: SECISBP2
Phenotype: Growth delay (HP:0001510)
Associated disease: Short stature-delayed bone age due to thyroid hormone metabolism deficiency (ORPHA:171706)
Gene: SECISBP2
Phenotype: Obesity (HP:0001513)
Associated disease: Short stature-delayed bone age due to thyroid hormone metabolism deficiency (ORPHA:171706)
Gene: SECISBP2
Phenotype: Increased circulating T4 concentration (HP:0031506)
Associated disease: Short stature-delayed bone age due to thyroid hormone metabolism deficiency (ORPHA:171706)
Gene: SECISBP2
Phenotype: Increased circulating T4 concentration (HP:0031506)
Associated disease: THYROID HORMONE METABOLISM, ABNORMAL (OMIM:609698)
Gene: SECISBP2
Phenotype: Abnormal circulating enzyme concentration or activity (HP:0012379)
Associated disease: Short stature-delayed bone age due to thyroid hormone metabolism deficiency (ORPHA:171706)
Gene: SECISBP2
Phenotype: Elevated circulating thyroid-stimulating hormone concentration (HP:0002925)
Associated disease: Short stature-delayed bone age due to thyroid hormone metabolism deficiency (ORPHA:171706)
Gene: SECISBP2
Phenotype: Elevated circulating thyroid-stimulating hormone concentration (HP:0002925)
Associated disease: THYROID HORMONE METABOLISM, ABNORMAL (OMIM:609698)
Gene: SECISBP2
Phenotype: Ptosis (HP:0000508)
Associated disease: Short stature-delayed bone age due to thyroid hormone metabolism deficiency (ORPHA:171706)
Gene: SECISBP2
Phenotype: Fatty replacement of skeletal muscle (HP:0012548)
Associated disease: Short stature-delayed bone age due to thyroid hormone metabolism deficiency (ORPHA:171706)
Gene: ALG8
Phenotype: Brachydactyly (HP:0001156)
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: Leukodystrophy (HP:0002415)
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: Seizure (HP:0001250)
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: Hypotonia (HP:0001252)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih (OMIM:608104)
Gene: ALG8
Phenotype: Hypotonia (HP:0001252)
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: Ataxia (HP:0001251)
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: Global developmental delay (HP:0001263)
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: Neonatal death (HP:0003811)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih (OMIM:608104)
Gene: ALG8
Phenotype: Cholestasis (HP:0001396)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih (OMIM:608104)
Gene: ALG8
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih (OMIM:608104)
Gene: ALG8
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: ALG8
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih (OMIM:608104)
Gene: ALG8
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: POLYCYSTIC LIVER DISEASE 3 WITH OR WITHOUT KIDNEY CYSTS (OMIM:617874)
Gene: ALG8
Phenotype: Vascular dilatation (HP:0002617)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: ALG8
Phenotype: Macroglossia (HP:0000158)
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: Early satiety (HP:0033842)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: ALG8
Phenotype: Renal cyst (HP:0000107)
Associated disease: POLYCYSTIC LIVER DISEASE 3 WITH OR WITHOUT KIDNEY CYSTS (OMIM:617874)
Gene: ALG8
Phenotype: Decreased liver function (HP:0001410)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih (OMIM:608104)
Gene: ALG8
Phenotype: Hepatic cysts (HP:0001407)
Associated disease: POLYCYSTIC LIVER DISEASE 3 WITH OR WITHOUT KIDNEY CYSTS (OMIM:617874)
Gene: ALG8
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: ALG8
Phenotype: Abdominal pain (HP:0002027)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: ALG8
Phenotype: Diarrhea (HP:0002014)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih (OMIM:608104)
Gene: ALG8
Phenotype: Diarrhea (HP:0002014)
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: Vomiting (HP:0002013)
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: Vomiting (HP:0002013)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih (OMIM:608104)
Gene: ALG8
Phenotype: Abnormality of the respiratory system (HP:0002086)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: ALG8
Phenotype: Dyspnea (HP:0002094)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: ALG8
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: ALG8
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
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 gamma-glutamyltransferase level (HP:0030948)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: ALG8
Phenotype: Cerebral cortical atrophy (HP:0002120)
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: Ventriculomegaly (HP:0002119)
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: Back pain (HP:0003418)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: ALG8
Phenotype: Infantile onset (HP:0003593)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih (OMIM:608104)
Gene: ALG8
Phenotype: Congenital onset (HP:0003577)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih (OMIM:608104)
Gene: ALG8
Phenotype: Protein-losing enteropathy (HP:0002243)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih (OMIM:608104)
Gene: ALG8
Phenotype: Increased total bilirubin (HP:0003573)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: ALG8
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: ALG8
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih (OMIM:608104)
Gene: ALG8
Phenotype: Gastrointestinal hemorrhage (HP:0002239)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: ALG8
Phenotype: Feeding difficulties (HP:0011968)
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: Leukoencephalopathy (HP:0002352)
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 subcutaneous fat tissue (HP:0001001)
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: Premature skin wrinkling (HP:0100678)
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: Pedal edema (HP:0010741)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: ALG8
Phenotype: Type I transferrin isoform profile (HP:0003642)
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: Type I transferrin isoform profile (HP:0003642)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih (OMIM:608104)
Gene: ALG8
Phenotype: Dilatation of the cerebral artery (HP:0004944)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: ALG8
Phenotype: Reduced protein C activity (HP:0005543)
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: Multiple renal cysts (HP:0005562)
Associated disease: ADPCLD; Isolated polycystic liver disease; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Gene: ALG8
Phenotype: Nystagmus (HP:0000639)
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: Reduced antithrombin III activity (HP:0001976)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ih (OMIM:608104)
Gene: ALG8
Phenotype: Reduced antithrombin III activity (HP:0001976)
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: Optic atrophy (HP:0000648)
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)