TaoMedAI/RareMedData huggingface dataset:
Gene: GFM2
Phenotype: Babinski sign (HP:0003487)
Associated disease: GFM2-related combined oxidative phosphorylation defect; COXPD39; Combined oxidative phosphorylation defect type 39 (ORPHA:565624)
Gene: GFM2
Phenotype: Babinski sign (HP:0003487)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39 (OMIM:618397)
Gene: GFM2
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: GFM2-related combined oxidative phosphorylation defect; COXPD39; Combined oxidative phosphorylation defect type 39 (ORPHA:565624)
Gene: GFM2
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39 (OMIM:618397)
Gene: GFM2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39 (OMIM:618397)
Gene: GFM2
Phenotype: Decreased activity of mitochondrial complex III (HP:0011924)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39 (OMIM:618397)
Gene: GFM2
Phenotype: Congenital onset (HP:0003577)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39 (OMIM:618397)
Gene: GFM2
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39 (OMIM:618397)
Gene: GFM2
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39 (OMIM:618397)
Gene: GFM2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39 (OMIM:618397)
Gene: GFM2
Phenotype: Developmental regression (HP:0002376)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39 (OMIM:618397)
Gene: GFM2
Phenotype: EEG abnormality (HP:0002353)
Associated disease: GFM2-related combined oxidative phosphorylation defect; COXPD39; Combined oxidative phosphorylation defect type 39 (ORPHA:565624)
Gene: GFM2
Phenotype: Type I diabetes mellitus (HP:0100651)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39 (OMIM:618397)
Gene: GFM2
Phenotype: Drooling (HP:0002307)
Associated disease: GFM2-related combined oxidative phosphorylation defect; COXPD39; Combined oxidative phosphorylation defect type 39 (ORPHA:565624)
Gene: GFM2
Phenotype: Drooling (HP:0002307)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39 (OMIM:618397)
Gene: GFM2
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: GFM2-related combined oxidative phosphorylation defect; COXPD39; Combined oxidative phosphorylation defect type 39 (ORPHA:565624)
Gene: GFM2
Phenotype: Neonatal hypoglycemia (HP:0001998)
Associated disease: GFM2-related combined oxidative phosphorylation defect; COXPD39; Combined oxidative phosphorylation defect type 39 (ORPHA:565624)
Gene: GFM2
Phenotype: Leg dystonia (HP:0031959)
Associated disease: GFM2-related combined oxidative phosphorylation defect; COXPD39; Combined oxidative phosphorylation defect type 39 (ORPHA:565624)
Gene: GFM2
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: GFM2-related combined oxidative phosphorylation defect; COXPD39; Combined oxidative phosphorylation defect type 39 (ORPHA:565624)
Gene: GFM2
Phenotype: Involuntary movements (HP:0004305)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39 (OMIM:618397)
Gene: GFM2
Phenotype: Involuntary movements (HP:0004305)
Associated disease: GFM2-related combined oxidative phosphorylation defect; COXPD39; Combined oxidative phosphorylation defect type 39 (ORPHA:565624)
Gene: GFM2
Phenotype: Decreased nerve conduction velocity (HP:0000762)
Associated disease: GFM2-related combined oxidative phosphorylation defect; COXPD39; Combined oxidative phosphorylation defect type 39 (ORPHA:565624)
Gene: GFM2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: GFM2-related combined oxidative phosphorylation defect; COXPD39; Combined oxidative phosphorylation defect type 39 (ORPHA:565624)
Gene: GFM2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39 (OMIM:618397)
Gene: GFM2
Phenotype: Elevated brain lactate level by MRS (HP:0012707)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39 (OMIM:618397)
Gene: GFM2
Phenotype: Reduced brain N-acetyl aspartate level by MRS (HP:0012708)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39 (OMIM:618397)
Gene: GFM2
Phenotype: Nasogastric tube feeding in infancy (HP:0011470)
Associated disease: GFM2-related combined oxidative phosphorylation defect; COXPD39; Combined oxidative phosphorylation defect type 39 (ORPHA:565624)
Gene: GFM2
Phenotype: Ankle clonus (HP:0011448)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39 (OMIM:618397)
Gene: GFM2
Phenotype: Ankle clonus (HP:0011448)
Associated disease: GFM2-related combined oxidative phosphorylation defect; COXPD39; Combined oxidative phosphorylation defect type 39 (ORPHA:565624)
Gene: GFM2
Phenotype: Congenital foot contractures (HP:0005745)
Associated disease: GFM2-related combined oxidative phosphorylation defect; COXPD39; Combined oxidative phosphorylation defect type 39 (ORPHA:565624)
Gene: GFM2
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: GFM2-related combined oxidative phosphorylation defect; COXPD39; Combined oxidative phosphorylation defect type 39 (ORPHA:565624)
Gene: GFM2
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39 (OMIM:618397)
Gene: GFM2
Phenotype: Hyperintensity of cerebral white matter on MRI (HP:0030890)
Associated disease: GFM2-related combined oxidative phosphorylation defect; COXPD39; Combined oxidative phosphorylation defect type 39 (ORPHA:565624)
Gene: GFM2
Phenotype: Joint contracture (HP:0034392)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39 (OMIM:618397)
Gene: GFM2
Phenotype: Congenital contracture (HP:0002803)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39 (OMIM:618397)
Gene: GFM2
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39 (OMIM:618397)
Gene: GFM2
Phenotype: Microcephaly (HP:0000252)
Associated disease: GFM2-related combined oxidative phosphorylation defect; COXPD39; Combined oxidative phosphorylation defect type 39 (ORPHA:565624)
Gene: GFM2
Phenotype: Microcephaly (HP:0000252)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39 (OMIM:618397)
Gene: GFM2
Phenotype: Tip-toe gait (HP:0030051)
Associated disease: GFM2-related combined oxidative phosphorylation defect; COXPD39; Combined oxidative phosphorylation defect type 39 (ORPHA:565624)
Gene: GFM2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: GFM2-related combined oxidative phosphorylation defect; COXPD39; Combined oxidative phosphorylation defect type 39 (ORPHA:565624)
Gene: GFM2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39 (OMIM:618397)
Gene: GFM2
Phenotype: Abnormal circulating enzyme concentration or activity (HP:0012379)
Associated disease: GFM2-related combined oxidative phosphorylation defect; COXPD39; Combined oxidative phosphorylation defect type 39 (ORPHA:565624)
Gene: GFM2
Phenotype: Sinus bradycardia (HP:0001688)
Associated disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 39 (OMIM:618397)
Gene: GFM2
Phenotype: Bradycardia (HP:0001662)
Associated disease: GFM2-related combined oxidative phosphorylation defect; COXPD39; Combined oxidative phosphorylation defect type 39 (ORPHA:565624)
Gene: GFM2
Phenotype: Prominent calcaneus (HP:0012428)
Associated disease: GFM2-related combined oxidative phosphorylation defect; COXPD39; Combined oxidative phosphorylation defect type 39 (ORPHA:565624)
Gene: GFM2
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: GFM2-related combined oxidative phosphorylation defect; COXPD39; Combined oxidative phosphorylation defect type 39 (ORPHA:565624)
Gene: COG8
Phenotype: Hand clenching (HP:0001188)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh (OMIM:611182)
Gene: COG8
Phenotype: Poor speech (HP:0002465)
Associated disease: CDG syndrome type IIh; Congenital disorder of glycosylation type 2h; Carbohydrate deficient glycoprotein syndrome type IIh; Congenital disorder of glycosylation type IIh; CDG2H; COG8-CDG; CDG-IIh (ORPHA:95428)
Gene: COG8
Phenotype: Alternating esotropia (HP:0001137)
Associated disease: CDG syndrome type IIh; Congenital disorder of glycosylation type 2h; Carbohydrate deficient glycoprotein syndrome type IIh; Congenital disorder of glycosylation type IIh; CDG2H; COG8-CDG; CDG-IIh (ORPHA:95428)
Gene: COG8
Phenotype: Alternating esotropia (HP:0001137)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh (OMIM:611182)
Gene: COG8
Phenotype: Chronic axonal neuropathy (HP:0007267)
Associated disease: CDG syndrome type IIh; Congenital disorder of glycosylation type 2h; Carbohydrate deficient glycoprotein syndrome type IIh; Congenital disorder of glycosylation type IIh; CDG2H; COG8-CDG; CDG-IIh (ORPHA:95428)
Gene: COG8
Phenotype: Chronic axonal neuropathy (HP:0007267)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh (OMIM:611182)
Gene: COG8
Phenotype: Increased nuchal translucency (HP:0010880)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh (OMIM:611182)
Gene: COG8
Phenotype: Poor head control (HP:0002421)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh (OMIM:611182)
Gene: COG8
Phenotype: Poor head control (HP:0002421)
Associated disease: CDG syndrome type IIh; Congenital disorder of glycosylation type 2h; Carbohydrate deficient glycoprotein syndrome type IIh; Congenital disorder of glycosylation type IIh; CDG2H; COG8-CDG; CDG-IIh (ORPHA:95428)
Gene: COG8
Phenotype: Interface hepatitis (HP:0032220)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh (OMIM:611182)
Gene: COG8
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: CDG syndrome type IIh; Congenital disorder of glycosylation type 2h; Carbohydrate deficient glycoprotein syndrome type IIh; Congenital disorder of glycosylation type IIh; CDG2H; COG8-CDG; CDG-IIh (ORPHA:95428)
Gene: COG8
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh (OMIM:611182)
Gene: COG8
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh (OMIM:611182)
Gene: COG8
Phenotype: Lethargy (HP:0001254)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh (OMIM:611182)
Gene: COG8
Phenotype: Seizure (HP:0001250)
Associated disease: CDG syndrome type IIh; Congenital disorder of glycosylation type 2h; Carbohydrate deficient glycoprotein syndrome type IIh; Congenital disorder of glycosylation type IIh; CDG2H; COG8-CDG; CDG-IIh (ORPHA:95428)
Gene: COG8
Phenotype: Seizure (HP:0001250)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh (OMIM:611182)
Gene: COG8
Phenotype: Hypotonia (HP:0001252)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh (OMIM:611182)
Gene: COG8
Phenotype: Ataxia (HP:0001251)
Associated disease: CDG syndrome type IIh; Congenital disorder of glycosylation type 2h; Carbohydrate deficient glycoprotein syndrome type IIh; Congenital disorder of glycosylation type IIh; CDG2H; COG8-CDG; CDG-IIh (ORPHA:95428)
Gene: COG8
Phenotype: Ataxia (HP:0001251)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh (OMIM:611182)
Gene: COG8
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CDG syndrome type IIh; Congenital disorder of glycosylation type 2h; Carbohydrate deficient glycoprotein syndrome type IIh; Congenital disorder of glycosylation type IIh; CDG2H; COG8-CDG; CDG-IIh (ORPHA:95428)
Gene: COG8
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh (OMIM:611182)
Gene: COG8
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh (OMIM:611182)
Gene: COG8
Phenotype: Spontaneous hematomas (HP:0007420)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh (OMIM:611182)
Gene: COG8
Phenotype: Spontaneous hematomas (HP:0007420)
Associated disease: CDG syndrome type IIh; Congenital disorder of glycosylation type 2h; Carbohydrate deficient glycoprotein syndrome type IIh; Congenital disorder of glycosylation type IIh; CDG2H; COG8-CDG; CDG-IIh (ORPHA:95428)
Gene: COG8
Phenotype: Atrophy/Degeneration affecting the brainstem (HP:0007366)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh (OMIM:611182)
Gene: COG8
Phenotype: Atrophy/Degeneration affecting the brainstem (HP:0007366)
Associated disease: CDG syndrome type IIh; Congenital disorder of glycosylation type 2h; Carbohydrate deficient glycoprotein syndrome type IIh; Congenital disorder of glycosylation type IIh; CDG2H; COG8-CDG; CDG-IIh (ORPHA:95428)
Gene: COG8
Phenotype: Absent speech (HP:0001344)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh (OMIM:611182)
Gene: COG8
Phenotype: Coxa valga (HP:0002673)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh (OMIM:611182)
Gene: COG8
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh (OMIM:611182)
Gene: COG8
Phenotype: Myoclonus (HP:0001336)
Associated disease: CDG syndrome type IIh; Congenital disorder of glycosylation type 2h; Carbohydrate deficient glycoprotein syndrome type IIh; Congenital disorder of glycosylation type IIh; CDG2H; COG8-CDG; CDG-IIh (ORPHA:95428)
Gene: COG8
Phenotype: Myoclonus (HP:0001336)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh (OMIM:611182)
Gene: COG8
Phenotype: Dysmetria (HP:0001310)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh (OMIM:611182)
Gene: COG8
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh (OMIM:611182)
Gene: COG8
Phenotype: Scoliosis (HP:0002650)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh (OMIM:611182)
Gene: COG8
Phenotype: Floppy infant (HP:0008947)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh (OMIM:611182)
Gene: COG8
Phenotype: Floppy infant (HP:0008947)
Associated disease: CDG syndrome type IIh; Congenital disorder of glycosylation type 2h; Carbohydrate deficient glycoprotein syndrome type IIh; Congenital disorder of glycosylation type IIh; CDG2H; COG8-CDG; CDG-IIh (ORPHA:95428)
Gene: COG8
Phenotype: Deep philtrum (HP:0002002)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh (OMIM:611182)
Gene: COG8
Phenotype: Clinodactyly of the 3rd toe (HP:0008115)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh (OMIM:611182)
Gene: COG8
Phenotype: Elevated serum transaminases during infections (HP:0008150)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh (OMIM:611182)
Gene: COG8
Phenotype: Prolonged prothrombin time (HP:0008151)
Associated disease: CDG syndrome type IIh; Congenital disorder of glycosylation type 2h; Carbohydrate deficient glycoprotein syndrome type IIh; Congenital disorder of glycosylation type IIh; CDG2H; COG8-CDG; CDG-IIh (ORPHA:95428)
Gene: COG8
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: CDG syndrome type IIh; Congenital disorder of glycosylation type 2h; Carbohydrate deficient glycoprotein syndrome type IIh; Congenital disorder of glycosylation type IIh; CDG2H; COG8-CDG; CDG-IIh (ORPHA:95428)
Gene: COG8
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh (OMIM:611182)
Gene: COG8
Phenotype: Status epilepticus (HP:0002133)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh (OMIM:611182)
Gene: COG8
Phenotype: Absent Achilles reflex (HP:0003438)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh (OMIM:611182)
Gene: COG8
Phenotype: Clinodactyly of the 4th toe (HP:0011918)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh (OMIM:611182)
Gene: COG8
Phenotype: Infantile onset (HP:0003593)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh (OMIM:611182)
Gene: COG8
Phenotype: Protein-losing enteropathy (HP:0002243)
Associated disease: CDG syndrome type IIh; Congenital disorder of glycosylation type 2h; Carbohydrate deficient glycoprotein syndrome type IIh; Congenital disorder of glycosylation type IIh; CDG2H; COG8-CDG; CDG-IIh (ORPHA:95428)
Gene: COG8
Phenotype: Reduced protein S activity (HP:0004855)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh (OMIM:611182)
Gene: COG8
Phenotype: Bilateral coxa valga (HP:0010665)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh (OMIM:611182)
Gene: COG8
Phenotype: Developmental regression (HP:0002376)
Associated disease: CDG syndrome type IIh; Congenital disorder of glycosylation type 2h; Carbohydrate deficient glycoprotein syndrome type IIh; Congenital disorder of glycosylation type IIh; CDG2H; COG8-CDG; CDG-IIh (ORPHA:95428)
Gene: COG8
Phenotype: Developmental regression (HP:0002376)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh (OMIM:611182)
Gene: COG8
Phenotype: Agenesis of cerebellar vermis (HP:0002335)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh (OMIM:611182)
Gene: COG8
Phenotype: Abnormal brain lactate level by MRS (HP:0025045)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh (OMIM:611182)
Gene: COG8
Phenotype: Acute encephalopathy (HP:0006846)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh (OMIM:611182)
Gene: COG8
Phenotype: Acute encephalopathy (HP:0006846)
Associated disease: CDG syndrome type IIh; Congenital disorder of glycosylation type 2h; Carbohydrate deficient glycoprotein syndrome type IIh; Congenital disorder of glycosylation type IIh; CDG2H; COG8-CDG; CDG-IIh (ORPHA:95428)
Gene: COG8
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: CDG syndrome type IIh; Congenital disorder of glycosylation type 2h; Carbohydrate deficient glycoprotein syndrome type IIh; Congenital disorder of glycosylation type IIh; CDG2H; COG8-CDG; CDG-IIh (ORPHA:95428)
Gene: COG8
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: CDG syndrome type IIh; Congenital disorder of glycosylation type 2h; Carbohydrate deficient glycoprotein syndrome type IIh; Congenital disorder of glycosylation type IIh; CDG2H; COG8-CDG; CDG-IIh (ORPHA:95428)
Gene: COG8
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh (OMIM:611182)
Gene: COG8
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh (OMIM:611182)
Gene: COG8
Phenotype: Late first trimester onset (HP:0034199)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh (OMIM:611182)
Gene: COG8
Phenotype: Short nose (HP:0003196)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh (OMIM:611182)
Gene: COG8
Phenotype: Finger clinodactyly (HP:0040019)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh (OMIM:611182)
Gene: COG8
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh (OMIM:611182)
Gene: COG8
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CDG syndrome type IIh; Congenital disorder of glycosylation type 2h; Carbohydrate deficient glycoprotein syndrome type IIh; Congenital disorder of glycosylation type IIh; CDG2H; COG8-CDG; CDG-IIh (ORPHA:95428)
Gene: COG8
Phenotype: Claw hand deformity (HP:0034337)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh (OMIM:611182)
Gene: COG8
Phenotype: Action myoclonus (HP:0034360)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh (OMIM:611182)
Gene: COG8
Phenotype: Epicanthus (HP:0000286)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh (OMIM:611182)
Gene: COG8
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh (OMIM:611182)
Gene: COG8
Phenotype: Ankle flexion contracture (HP:0006466)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh (OMIM:611182)
Gene: COG8
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh (OMIM:611182)
Gene: COG8
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: CDG syndrome type IIh; Congenital disorder of glycosylation type 2h; Carbohydrate deficient glycoprotein syndrome type IIh; Congenital disorder of glycosylation type IIh; CDG2H; COG8-CDG; CDG-IIh (ORPHA:95428)
Gene: COG8
Phenotype: Microcephaly (HP:0000252)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh (OMIM:611182)
Gene: COG8
Phenotype: Thin vermilion border (HP:0000233)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh (OMIM:611182)
Gene: COG8
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CDG syndrome type IIh; Congenital disorder of glycosylation type 2h; Carbohydrate deficient glycoprotein syndrome type IIh; Congenital disorder of glycosylation type IIh; CDG2H; COG8-CDG; CDG-IIh (ORPHA:95428)
Gene: COG8
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh (OMIM:611182)
Gene: COG8
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh (OMIM:611182)
Gene: COG8
Phenotype: Camptodactyly (HP:0012385)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh (OMIM:611182)
Gene: COG8
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: CDG syndrome type IIh; Congenital disorder of glycosylation type 2h; Carbohydrate deficient glycoprotein syndrome type IIh; Congenital disorder of glycosylation type IIh; CDG2H; COG8-CDG; CDG-IIh (ORPHA:95428)
Gene: COG8
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh (OMIM:611182)
Gene: COG8
Phenotype: Low-set ears (HP:0000369)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh (OMIM:611182)
Gene: COG8
Phenotype: Micrognathia (HP:0000347)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh (OMIM:611182)
Gene: COG8
Phenotype: Type II transferrin isoform profile (HP:0012301)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh (OMIM:611182)
Gene: COG8
Phenotype: Hypertelorism (HP:0000316)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh (OMIM:611182)
Gene: COG8
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh (OMIM:611182)
Gene: COG8
Phenotype: Anteverted nares (HP:0000463)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh (OMIM:611182)
Gene: COG8
Phenotype: Thickened nuchal skin fold (HP:0000474)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh (OMIM:611182)
Gene: COG8
Phenotype: Short neck (HP:0000470)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh (OMIM:611182)
Gene: COG8
Phenotype: Wide nose (HP:0000445)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh (OMIM:611182)
Gene: COG8
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh (OMIM:611182)
Gene: COG8
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh (OMIM:611182)
Gene: COG8
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIh (OMIM:611182)
Gene: COG8
Phenotype: Food intolerance (HP:0012537)
Associated disease: CDG syndrome type IIh; Congenital disorder of glycosylation type 2h; Carbohydrate deficient glycoprotein syndrome type IIh; Congenital disorder of glycosylation type IIh; CDG2H; COG8-CDG; CDG-IIh (ORPHA:95428)