TaoMedAI/RareMedData huggingface dataset:
Gene: SHANK3
Phenotype: Reduced social responsiveness (HP:0012760)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SHANK3
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Chylothorax (HP:0010310)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SHANK3
Phenotype: Hypohidrosis (HP:0000966)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Sacral dimple (HP:0000960)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Arrhythmia (HP:0011675)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SHANK3
Phenotype: Epicanthus (HP:0000286)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Full cheeks (HP:0000293)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Macrocephaly (HP:0000256)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Malar flattening (HP:0000272)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Kyphosis (HP:0002808)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SHANK3
Phenotype: Microcephaly (HP:0000252)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: High palate (HP:0000218)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SHANK3
Phenotype: Hearing impairment (HP:0000365)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Long philtrum (HP:0000343)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Prominent supraorbital ridges (HP:0000336)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Micrognathia (HP:0000347)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SHANK3
Phenotype: Micrognathia (HP:0000347)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Hypertelorism (HP:0000316)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SHANK3
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Short chin (HP:0000331)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SHANK3
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SHANK3
Phenotype: Pointed chin (HP:0000307)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Macrotia (HP:0000400)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Strabismus (HP:0000486)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SHANK3
Phenotype: Recurrent corneal erosions (HP:0000495)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SHANK3
Phenotype: Deeply set eye (HP:0000490)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SHANK3
Phenotype: Concave nasal ridge (HP:0011120)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Webbed neck (HP:0000465)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SHANK3
Phenotype: Bulbous nose (HP:0000414)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Protruding ear (HP:0000411)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Long eyelashes (HP:0000527)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SHANK3
Phenotype: Ptosis (HP:0000508)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SHANK3
Phenotype: Ptosis (HP:0000508)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Hypoplastic toenails (HP:0001800)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: PHELAN-MCDERMID SYNDROME (OMIM:606232)
Gene: SHANK3
Phenotype: Microphthalmia (HP:0000568)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: ALG2
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG2
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii (OMIM:607906)
Gene: ALG2
Phenotype: Poor head control (HP:0002421)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG2
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii (OMIM:607906)
Gene: ALG2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG2
Phenotype: Motor delay (HP:0001270)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 14 (OMIM:616228)
Gene: ALG2
Phenotype: Motor delay (HP:0001270)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii (OMIM:607906)
Gene: ALG2
Phenotype: Motor delay (HP:0001270)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG2
Phenotype: Areflexia (HP:0001284)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG2
Phenotype: Seizure (HP:0001250)
Associated disease: CDG-Ii; Congenital disorder of glycosylation type Ii; CDG1I; Congenital disorder of glycosylation type 1i; ALG2-CDG; Mannosyltransferase 2 deficiency; CDG syndrome type Ii; Carbohydrate deficient glycoprotein syndrome type Ii (ORPHA:79326)
Gene: ALG2
Phenotype: Hypotonia (HP:0001252)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 14 (OMIM:616228)
Gene: ALG2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CDG-Ii; Congenital disorder of glycosylation type Ii; CDG1I; Congenital disorder of glycosylation type 1i; ALG2-CDG; Mannosyltransferase 2 deficiency; CDG syndrome type Ii; Carbohydrate deficient glycoprotein syndrome type Ii (ORPHA:79326)
Gene: ALG2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CDG-Ii; Congenital disorder of glycosylation type Ii; CDG1I; Congenital disorder of glycosylation type 1i; ALG2-CDG; Mannosyltransferase 2 deficiency; CDG syndrome type Ii; Carbohydrate deficient glycoprotein syndrome type Ii (ORPHA:79326)
Gene: ALG2
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: CDG-Ii; Congenital disorder of glycosylation type Ii; CDG1I; Congenital disorder of glycosylation type 1i; ALG2-CDG; Mannosyltransferase 2 deficiency; CDG syndrome type Ii; Carbohydrate deficient glycoprotein syndrome type Ii (ORPHA:79326)
Gene: ALG2
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii (OMIM:607906)
Gene: ALG2
Phenotype: Waddling gait (HP:0002515)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG2
Phenotype: Waddling gait (HP:0002515)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 14 (OMIM:616228)
Gene: ALG2
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG2
Phenotype: Type 1 muscle fiber predominance (HP:0003803)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 14 (OMIM:616228)
Gene: ALG2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii (OMIM:607906)
Gene: ALG2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii (OMIM:607906)
Gene: ALG2
Phenotype: Dystonia (HP:0001332)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii (OMIM:607906)
Gene: ALG2
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii (OMIM:607906)
Gene: ALG2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 14 (OMIM:616228)
Gene: ALG2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii (OMIM:607906)
Gene: ALG2
Phenotype: Scoliosis (HP:0002650)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 14 (OMIM:616228)
Gene: ALG2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG2
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii (OMIM:607906)
Gene: ALG2
Phenotype: Limb-girdle muscle weakness (HP:0003325)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 14 (OMIM:616228)
Gene: ALG2
Phenotype: Limb-girdle muscle weakness (HP:0003325)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG2
Phenotype: Diarrhea (HP:0002014)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii (OMIM:607906)
Gene: ALG2
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 14 (OMIM:616228)
Gene: ALG2
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG2
Phenotype: Gowers sign (HP:0003391)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG2
Phenotype: Gowers sign (HP:0003391)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 14 (OMIM:616228)
Gene: ALG2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: CDG-Ii; Congenital disorder of glycosylation type Ii; CDG1I; Congenital disorder of glycosylation type 1i; ALG2-CDG; Mannosyltransferase 2 deficiency; CDG syndrome type Ii; Carbohydrate deficient glycoprotein syndrome type Ii (ORPHA:79326)
Gene: ALG2
Phenotype: Easy fatigability (HP:0003388)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG2
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 14 (OMIM:616228)
Gene: ALG2
Phenotype: Nasogastric tube feeding (HP:0040288)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii (OMIM:607906)
Gene: ALG2
Phenotype: Fatigable weakness (HP:0003473)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 14 (OMIM:616228)
Gene: ALG2
Phenotype: Fatigable weakness (HP:0003473)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii (OMIM:607906)
Gene: ALG2
Phenotype: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation (HP:0003403)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 14 (OMIM:616228)
Gene: ALG2
Phenotype: EMG: decremental response of compound muscle action potential to repetitive nerve stimulation (HP:0003403)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG2
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii (OMIM:607906)
Gene: ALG2
Phenotype: Infantile onset (HP:0003593)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 14 (OMIM:616228)
Gene: ALG2
Phenotype: Infantile onset (HP:0003593)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii (OMIM:607906)
Gene: ALG2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: CDG-Ii; Congenital disorder of glycosylation type Ii; CDG1I; Congenital disorder of glycosylation type 1i; ALG2-CDG; Mannosyltransferase 2 deficiency; CDG syndrome type Ii; Carbohydrate deficient glycoprotein syndrome type Ii (ORPHA:79326)
Gene: ALG2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii (OMIM:607906)
Gene: ALG2
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG2
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 14 (OMIM:616228)
Gene: ALG2
Phenotype: Facial palsy (HP:0010628)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG2
Phenotype: Esodeviation (HP:0020045)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii (OMIM:607906)
Gene: ALG2
Phenotype: Scapular winging (HP:0003691)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG2
Phenotype: Scapular winging (HP:0003691)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 14 (OMIM:616228)
Gene: ALG2
Phenotype: Frequent falls (HP:0002359)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG2
Phenotype: Centrally nucleated skeletal muscle fibers (HP:0003687)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 14 (OMIM:616228)
Gene: ALG2
Phenotype: Slowly progressive (HP:0003677)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 14 (OMIM:616228)
Gene: ALG2
Phenotype: Prolonged partial thromboplastin time (HP:0003645)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii (OMIM:607906)
Gene: ALG2
Phenotype: Type I transferrin isoform profile (HP:0003642)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii (OMIM:607906)
Gene: ALG2
Phenotype: Type I transferrin isoform profile (HP:0003642)
Associated disease: CDG-Ii; Congenital disorder of glycosylation type Ii; CDG1I; Congenital disorder of glycosylation type 1i; ALG2-CDG; Mannosyltransferase 2 deficiency; CDG syndrome type Ii; Carbohydrate deficient glycoprotein syndrome type Ii (ORPHA:79326)
Gene: ALG2
Phenotype: Distal joint hypermobility (HP:0020152)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 14 (OMIM:616228)
Gene: ALG2
Phenotype: Focal T2 hyperintense basal ganglia lesion (HP:0007183)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii (OMIM:607906)
Gene: ALG2
Phenotype: Cerebral hypomyelination (HP:0006808)
Associated disease: CDG-Ii; Congenital disorder of glycosylation type Ii; CDG1I; Congenital disorder of glycosylation type 1i; ALG2-CDG; Mannosyltransferase 2 deficiency; CDG syndrome type Ii; Carbohydrate deficient glycoprotein syndrome type Ii (ORPHA:79326)
Gene: ALG2
Phenotype: Nystagmus (HP:0000639)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii (OMIM:607906)
Gene: ALG2
Phenotype: Iris coloboma (HP:0000612)
Associated disease: CDG-Ii; Congenital disorder of glycosylation type Ii; CDG1I; Congenital disorder of glycosylation type 1i; ALG2-CDG; Mannosyltransferase 2 deficiency; CDG syndrome type Ii; Carbohydrate deficient glycoprotein syndrome type Ii (ORPHA:79326)
Gene: ALG2
Phenotype: Iris coloboma (HP:0000612)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii (OMIM:607906)
Gene: ALG2
Phenotype: Reduced factor XI activity (HP:0001929)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii (OMIM:607906)
Gene: ALG2
Phenotype: Abnormality of coagulation (HP:0001928)
Associated disease: CDG-Ii; Congenital disorder of glycosylation type Ii; CDG1I; Congenital disorder of glycosylation type 1i; ALG2-CDG; Mannosyltransferase 2 deficiency; CDG syndrome type Ii; Carbohydrate deficient glycoprotein syndrome type Ii (ORPHA:79326)
Gene: ALG2
Phenotype: Difficulty running (HP:0009046)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG2
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: CDG-Ii; Congenital disorder of glycosylation type Ii; CDG1I; Congenital disorder of glycosylation type 1i; ALG2-CDG; Mannosyltransferase 2 deficiency; CDG syndrome type Ii; Carbohydrate deficient glycoprotein syndrome type Ii (ORPHA:79326)
Gene: ALG2
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii (OMIM:607906)
Gene: ALG2
Phenotype: Generalized weakness of limb muscles (HP:0009028)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG2
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: CDG-Ii; Congenital disorder of glycosylation type Ii; CDG1I; Congenital disorder of glycosylation type 1i; ALG2-CDG; Mannosyltransferase 2 deficiency; CDG syndrome type Ii; Carbohydrate deficient glycoprotein syndrome type Ii (ORPHA:79326)
Gene: ALG2
Phenotype: Decreased body weight (HP:0004325)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii (OMIM:607906)
Gene: ALG2
Phenotype: Short stature (HP:0004322)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii (OMIM:607906)
Gene: ALG2
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: CDG-Ii; Congenital disorder of glycosylation type Ii; CDG1I; Congenital disorder of glycosylation type 1i; ALG2-CDG; Mannosyltransferase 2 deficiency; CDG syndrome type Ii; Carbohydrate deficient glycoprotein syndrome type Ii (ORPHA:79326)
Gene: ALG2
Phenotype: Abnormal basal ganglia MRI signal intensity (HP:0012751)
Associated disease: CDG-Ii; Congenital disorder of glycosylation type Ii; CDG1I; Congenital disorder of glycosylation type 1i; ALG2-CDG; Mannosyltransferase 2 deficiency; CDG syndrome type Ii; Carbohydrate deficient glycoprotein syndrome type Ii (ORPHA:79326)
Gene: ALG2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii (OMIM:607906)
Gene: ALG2
Phenotype: Widened subarachnoid space (HP:0012704)
Associated disease: CDG-Ii; Congenital disorder of glycosylation type Ii; CDG1I; Congenital disorder of glycosylation type 1i; ALG2-CDG; Mannosyltransferase 2 deficiency; CDG syndrome type Ii; Carbohydrate deficient glycoprotein syndrome type Ii (ORPHA:79326)
Gene: ALG2
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: CDG-Ii; Congenital disorder of glycosylation type Ii; CDG1I; Congenital disorder of glycosylation type 1i; ALG2-CDG; Mannosyltransferase 2 deficiency; CDG syndrome type Ii; Carbohydrate deficient glycoprotein syndrome type Ii (ORPHA:79326)
Gene: ALG2
Phenotype: Childhood onset (HP:0011463)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 14 (OMIM:616228)
Gene: ALG2
Phenotype: Childhood onset (HP:0011463)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii (OMIM:607906)
Gene: ALG2
Phenotype: Myopathy (HP:0003198)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG2
Phenotype: Muscle fiber tubular inclusions (HP:0100301)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 14 (OMIM:616228)
Gene: ALG2
Phenotype: Muscle fiber tubular inclusions (HP:0100301)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG2
Phenotype: Inverted nipples (HP:0003186)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii (OMIM:607906)
Gene: ALG2
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii (OMIM:607906)
Gene: ALG2
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii (OMIM:607906)
Gene: ALG2
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG2
Phenotype: Hyperintensity of cerebral white matter on MRI (HP:0030890)
Associated disease: CDG-Ii; Congenital disorder of glycosylation type Ii; CDG1I; Congenital disorder of glycosylation type 1i; ALG2-CDG; Mannosyltransferase 2 deficiency; CDG syndrome type Ii; Carbohydrate deficient glycoprotein syndrome type Ii (ORPHA:79326)
Gene: ALG2
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG2
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 14 (OMIM:616228)
Gene: ALG2
Phenotype: Epicanthus (HP:0000286)
Associated disease: CDG-Ii; Congenital disorder of glycosylation type Ii; CDG1I; Congenital disorder of glycosylation type 1i; ALG2-CDG; Mannosyltransferase 2 deficiency; CDG syndrome type Ii; Carbohydrate deficient glycoprotein syndrome type Ii (ORPHA:79326)
Gene: ALG2
Phenotype: Epicanthus (HP:0000286)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii (OMIM:607906)
Gene: ALG2
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG2
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 14 (OMIM:616228)
Gene: ALG2
Phenotype: Microcephaly (HP:0000252)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii (OMIM:607906)
Gene: ALG2
Phenotype: Microcephaly (HP:0000252)
Associated disease: CDG-Ii; Congenital disorder of glycosylation type Ii; CDG1I; Congenital disorder of glycosylation type 1i; ALG2-CDG; Mannosyltransferase 2 deficiency; CDG syndrome type Ii; Carbohydrate deficient glycoprotein syndrome type Ii (ORPHA:79326)
Gene: ALG2
Phenotype: High palate (HP:0000218)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 14 (OMIM:616228)
Gene: ALG2
Phenotype: High palate (HP:0000218)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii (OMIM:607906)
Gene: ALG2
Phenotype: High palate (HP:0000218)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)
Gene: ALG2
Phenotype: Epileptic spasm (HP:0011097)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii (OMIM:607906)
Gene: ALG2
Phenotype: Abnormal circulating enzyme concentration or activity (HP:0012379)
Associated disease: CDG-Ii; Congenital disorder of glycosylation type Ii; CDG1I; Congenital disorder of glycosylation type 1i; ALG2-CDG; Mannosyltransferase 2 deficiency; CDG syndrome type Ii; Carbohydrate deficient glycoprotein syndrome type Ii (ORPHA:79326)
Gene: ALG2
Phenotype: Flat face (HP:0012368)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ii (OMIM:607906)
Gene: ALG2
Phenotype: Increased jitter at single fiber EMG (HP:0030205)
Associated disease: Congenital myasthenic syndromes with glycosylation defect (ORPHA:353327)