TaoMedAI/RareMedData huggingface dataset:
Gene: TTC5
Phenotype: Pointed chin (HP:0000307)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM (OMIM:619244)
Gene: TTC5
Phenotype: Wide intermamillary distance (HP:0006610)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM (OMIM:619244)
Gene: TTC5
Phenotype: Prominent nose (HP:0000448)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM (OMIM:619244)
Gene: TTC5
Phenotype: Broad eyebrow (HP:0011229)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM (OMIM:619244)
Gene: NDUFAF2
Phenotype: Fetal distress (HP:0025116)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF2
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF2
Phenotype: Increased CSF lactate (HP:0002490)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 (OMIM:618233)
Gene: NDUFAF2
Phenotype: Optic neuropathy (HP:0001138)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF2
Phenotype: Poor head control (HP:0002421)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF2
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF2
Phenotype: Mitochondrial myopathy (HP:0003737)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF2
Phenotype: Encephalopathy (HP:0001298)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF2
Phenotype: Encephalopathy (HP:0001298)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 (OMIM:618233)
Gene: NDUFAF2
Phenotype: Areflexia (HP:0001284)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 (OMIM:618233)
Gene: NDUFAF2
Phenotype: Lethargy (HP:0001254)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF2
Phenotype: Seizure (HP:0001250)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 (OMIM:618233)
Gene: NDUFAF2
Phenotype: Hypotonia (HP:0001252)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 (OMIM:618233)
Gene: NDUFAF2
Phenotype: Hypotonia (HP:0001252)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF2
Phenotype: Ataxia (HP:0001251)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF2
Phenotype: Ataxia (HP:0001251)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 (OMIM:618233)
Gene: NDUFAF2
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 (OMIM:618233)
Gene: NDUFAF2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 (OMIM:618233)
Gene: NDUFAF2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 (OMIM:618233)
Gene: NDUFAF2
Phenotype: Dysmetria (HP:0001310)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 (OMIM:618233)
Gene: NDUFAF2
Phenotype: Proximal tubulopathy (HP:0000114)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF2
Phenotype: Dysphagia (HP:0002015)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 (OMIM:618233)
Gene: NDUFAF2
Phenotype: Vomiting (HP:0002013)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF2
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF2
Phenotype: Broad-based gait (HP:0002136)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 (OMIM:618233)
Gene: NDUFAF2
Phenotype: Apnea (HP:0002104)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 (OMIM:618233)
Gene: NDUFAF2
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF2
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 (OMIM:618233)
Gene: NDUFAF2
Phenotype: Sleep apnea (HP:0010535)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 (OMIM:618233)
Gene: NDUFAF2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF2
Phenotype: Increased circulating pyruvate concentration (HP:0003542)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 (OMIM:618233)
Gene: NDUFAF2
Phenotype: Abnormal mitochondria in muscle tissue (HP:0008316)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF2
Phenotype: Progressive (HP:0003676)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 (OMIM:618233)
Gene: NDUFAF2
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF2
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 (OMIM:618233)
Gene: NDUFAF2
Phenotype: Central hypoventilation (HP:0007110)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 (OMIM:618233)
Gene: NDUFAF2
Phenotype: Nystagmus (HP:0000639)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF2
Phenotype: Nystagmus (HP:0000639)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 (OMIM:618233)
Gene: NDUFAF2
Phenotype: Optic atrophy (HP:0000648)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 (OMIM:618233)
Gene: NDUFAF2
Phenotype: Blindness (HP:0000618)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF2
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF2
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 (OMIM:618233)
Gene: NDUFAF2
Phenotype: Focal T2 hyperintense brainstem lesion (HP:0012748)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF2
Phenotype: Childhood onset (HP:0011463)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 (OMIM:618233)
Gene: NDUFAF2
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF2
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF2
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF2
Phenotype: Paroxysmal involuntary eye movements (HP:0007704)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF2
Phenotype: Microcephaly (HP:0000252)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF2
Phenotype: Respiratory failure (HP:0002878)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 (OMIM:618233)
Gene: NDUFAF2
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF2
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF2
Phenotype: Strabismus (HP:0000486)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF2
Phenotype: Ptosis (HP:0000508)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF2
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Isolated NADH-ubiquinone reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-CoQ reductase deficiency; Isolated complex I deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Gene: NDUFAF2
Phenotype: External ophthalmoplegia (HP:0000544)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 10 (OMIM:618233)
Gene: COG7
Phenotype: Adducted thumb (HP:0001181)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe (OMIM:608779)
Gene: COG7
Phenotype: Adducted thumb (HP:0001181)
Associated disease: COG7-CDG; CDG syndrome type IIe; CDG-IIe; Congenital disorder of glycosylation type IIe; CDG2E; Congenital disorder of glycosylation type 2e; Carbohydrate deficient glycoprotein syndrome type IIe (ORPHA:79333)
Gene: COG7
Phenotype: Abnormal finger morphology (HP:0001167)
Associated disease: COG7-CDG; CDG syndrome type IIe; CDG-IIe; Congenital disorder of glycosylation type IIe; CDG2E; Congenital disorder of glycosylation type 2e; Carbohydrate deficient glycoprotein syndrome type IIe (ORPHA:79333)
Gene: COG7
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe (OMIM:608779)
Gene: COG7
Phenotype: Long fingers (HP:0100807)
Associated disease: COG7-CDG; CDG syndrome type IIe; CDG-IIe; Congenital disorder of glycosylation type IIe; CDG2E; Congenital disorder of glycosylation type 2e; Carbohydrate deficient glycoprotein syndrome type IIe (ORPHA:79333)
Gene: COG7
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: COG7-CDG; CDG syndrome type IIe; CDG-IIe; Congenital disorder of glycosylation type IIe; CDG2E; Congenital disorder of glycosylation type 2e; Carbohydrate deficient glycoprotein syndrome type IIe (ORPHA:79333)
Gene: COG7
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe (OMIM:608779)
Gene: COG7
Phenotype: Areflexia (HP:0001284)
Associated disease: COG7-CDG; CDG syndrome type IIe; CDG-IIe; Congenital disorder of glycosylation type IIe; CDG2E; Congenital disorder of glycosylation type 2e; Carbohydrate deficient glycoprotein syndrome type IIe (ORPHA:79333)
Gene: COG7
Phenotype: Seizure (HP:0001250)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe (OMIM:608779)
Gene: COG7
Phenotype: Seizure (HP:0001250)
Associated disease: COG7-CDG; CDG syndrome type IIe; CDG-IIe; Congenital disorder of glycosylation type IIe; CDG2E; Congenital disorder of glycosylation type 2e; Carbohydrate deficient glycoprotein syndrome type IIe (ORPHA:79333)
Gene: COG7
Phenotype: Hypotonia (HP:0001252)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe (OMIM:608779)
Gene: COG7
Phenotype: Hypotonia (HP:0001252)
Associated disease: COG7-CDG; CDG syndrome type IIe; CDG-IIe; Congenital disorder of glycosylation type IIe; CDG2E; Congenital disorder of glycosylation type 2e; Carbohydrate deficient glycoprotein syndrome type IIe (ORPHA:79333)
Gene: COG7
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: COG7-CDG; CDG syndrome type IIe; CDG-IIe; Congenital disorder of glycosylation type IIe; CDG2E; Congenital disorder of glycosylation type 2e; Carbohydrate deficient glycoprotein syndrome type IIe (ORPHA:79333)
Gene: COG7
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe (OMIM:608779)
Gene: COG7
Phenotype: Excessive wrinkled skin (HP:0007392)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe (OMIM:608779)
Gene: COG7
Phenotype: Excessive wrinkled skin (HP:0007392)
Associated disease: COG7-CDG; CDG syndrome type IIe; CDG-IIe; Congenital disorder of glycosylation type IIe; CDG2E; Congenital disorder of glycosylation type 2e; Carbohydrate deficient glycoprotein syndrome type IIe (ORPHA:79333)
Gene: COG7
Phenotype: Abnormality of the kidney (HP:0000077)
Associated disease: COG7-CDG; CDG syndrome type IIe; CDG-IIe; Congenital disorder of glycosylation type IIe; CDG2E; Congenital disorder of glycosylation type 2e; Carbohydrate deficient glycoprotein syndrome type IIe (ORPHA:79333)
Gene: COG7
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: COG7-CDG; CDG syndrome type IIe; CDG-IIe; Congenital disorder of glycosylation type IIe; CDG2E; Congenital disorder of glycosylation type 2e; Carbohydrate deficient glycoprotein syndrome type IIe (ORPHA:79333)
Gene: COG7
Phenotype: Neurogenic bladder (HP:0000011)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe (OMIM:608779)
Gene: COG7
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe (OMIM:608779)
Gene: COG7
Phenotype: Narrow mouth (HP:0000160)
Associated disease: COG7-CDG; CDG syndrome type IIe; CDG-IIe; Congenital disorder of glycosylation type IIe; CDG2E; Congenital disorder of glycosylation type 2e; Carbohydrate deficient glycoprotein syndrome type IIe (ORPHA:79333)
Gene: COG7
Phenotype: Narrow mouth (HP:0000160)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe (OMIM:608779)
Gene: COG7
Phenotype: Subcortical cerebral atrophy (HP:0012157)
Associated disease: COG7-CDG; CDG syndrome type IIe; CDG-IIe; Congenital disorder of glycosylation type IIe; CDG2E; Congenital disorder of glycosylation type 2e; Carbohydrate deficient glycoprotein syndrome type IIe (ORPHA:79333)
Gene: COG7
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe (OMIM:608779)
Gene: COG7
Phenotype: Hepatosplenomegaly (HP:0001433)
Associated disease: COG7-CDG; CDG syndrome type IIe; CDG-IIe; Congenital disorder of glycosylation type IIe; CDG2E; Congenital disorder of glycosylation type 2e; Carbohydrate deficient glycoprotein syndrome type IIe (ORPHA:79333)
Gene: COG7
Phenotype: Decreased liver function (HP:0001410)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe (OMIM:608779)
Gene: COG7
Phenotype: Recurrent infections (HP:0002719)
Associated disease: COG7-CDG; CDG syndrome type IIe; CDG-IIe; Congenital disorder of glycosylation type IIe; CDG2E; Congenital disorder of glycosylation type 2e; Carbohydrate deficient glycoprotein syndrome type IIe (ORPHA:79333)
Gene: COG7
Phenotype: Recurrent infections (HP:0002719)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe (OMIM:608779)
Gene: COG7
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe (OMIM:608779)
Gene: COG7
Phenotype: Diarrhea (HP:0002014)
Associated disease: COG7-CDG; CDG syndrome type IIe; CDG-IIe; Congenital disorder of glycosylation type IIe; CDG2E; Congenital disorder of glycosylation type 2e; Carbohydrate deficient glycoprotein syndrome type IIe (ORPHA:79333)
Gene: COG7
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe (OMIM:608779)
Gene: COG7
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe (OMIM:608779)
Gene: COG7
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe (OMIM:608779)
Gene: COG7
Phenotype: Overlapping fingers (HP:0010557)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe (OMIM:608779)
Gene: COG7
Phenotype: Congenital onset (HP:0003577)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe (OMIM:608779)
Gene: COG7
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: COG7-CDG; CDG syndrome type IIe; CDG-IIe; Congenital disorder of glycosylation type IIe; CDG2E; Congenital disorder of glycosylation type 2e; Carbohydrate deficient glycoprotein syndrome type IIe (ORPHA:79333)
Gene: COG7
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe (OMIM:608779)
Gene: COG7
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe (OMIM:608779)
Gene: COG7
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: COG7-CDG; CDG syndrome type IIe; CDG-IIe; Congenital disorder of glycosylation type IIe; CDG2E; Congenital disorder of glycosylation type 2e; Carbohydrate deficient glycoprotein syndrome type IIe (ORPHA:79333)
Gene: COG7
Phenotype: Protruding tongue (HP:0010808)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe (OMIM:608779)
Gene: COG7
Phenotype: Hypoglycemia (HP:0001943)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe (OMIM:608779)
Gene: COG7
Phenotype: Recurrent fever (HP:0001954)
Associated disease: COG7-CDG; CDG syndrome type IIe; CDG-IIe; Congenital disorder of glycosylation type IIe; CDG2E; Congenital disorder of glycosylation type 2e; Carbohydrate deficient glycoprotein syndrome type IIe (ORPHA:79333)