TaoMedAI/RareMedData huggingface dataset:
Gene: PUF60
Phenotype: Overlapping toe (HP:0001845)
Associated disease: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome; Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene (ORPHA:508498)
Gene: PUF60
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PUF60
Phenotype: Long eyelashes (HP:0000527)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PUF60
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PUF60
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Bilateral renal hypoplasia (HP:0012584)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Exotropia (HP:0000577)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PUF60
Phenotype: Coloboma (HP:0000589)
Associated disease: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome; Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene (ORPHA:508498)
Gene: PUF60
Phenotype: Coloboma (HP:0000589)
Associated disease: VERHEIJ SYNDROME (OMIM:615583)
Gene: PUF60
Phenotype: Prominent forehead (HP:0011220)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Prominent forehead (HP:0011220)
Associated disease: VERHEIJ SYNDROME (OMIM:615583)
Gene: PUF60
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome; Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene (ORPHA:508498)
Gene: PUF60
Phenotype: Esotropia (HP:0000565)
Associated disease: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome; Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene (ORPHA:508498)
Gene: PUF60
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome; Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene (ORPHA:508498)
Gene: PUF60
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: PUF60
Phenotype: Talipes (HP:0001883)
Associated disease: 8q24.3 microdeletion syndrome; Del(8)(q24.3); Monosomy 8q24.3; Deletion 8q24.3 (ORPHA:508488)
Gene: PUF60
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PUF60
Phenotype: Myopia (HP:0000545)
Associated disease: Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome; Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene (ORPHA:508498)
Gene: COBLL1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: COBLL1
Phenotype: Cleft palate (HP:0000175)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: COBLL1
Phenotype: Peg-shaped maxillary lateral incisors (HP:0006342)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: COBLL1
Phenotype: Abnormality of dental eruption (HP:0006292)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: COBLL1
Phenotype: Poor suck (HP:0002033)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: COBLL1
Phenotype: Agenesis of lateral incisor (HP:0200153)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: COBLL1
Phenotype: Oral-pharyngeal dysphagia (HP:0200136)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: COBLL1
Phenotype: Speech articulation difficulties (HP:0009088)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: COBLL1
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: COBLL1
Phenotype: Malnutrition (HP:0004395)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: COBLL1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: COBLL1
Phenotype: Bilateral cleft palate (HP:0100337)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: COBLL1
Phenotype: Unilateral cleft palate (HP:0100334)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: COBLL1
Phenotype: Palate fistula (HP:0010294)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: COBLL1
Phenotype: Velopharyngeal insufficiency (HP:0000220)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: COBLL1
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: COBLL1
Phenotype: Abnormal number of permanent teeth (HP:0011044)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: COBLL1
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: COBLL1
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: COBLL1
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: COBLL1
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Cleft lip and palate; FLP; Cleft lip/palate; Cleft lip-alveolus-palate syndrome; Alveolar cleft lip and palate (ORPHA:199306)
Gene: DOLK
Phenotype: Tetraplegia (HP:0002445)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im (OMIM:610768)
Gene: DOLK
Phenotype: Left ventricular systolic dysfunction (HP:0025169)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: DOLK
Phenotype: Motor delay (HP:0001270)
Associated disease: Hypotonia and ichthyosis due to dolichol phosphate deficiency; Congenital disorder of glycosylation type 1m; Congenital disorder of glycosylation type Im; Dolichol kinase deficiency; Carbohydrate deficient glycoprotein syndrome type Im; DK1-CDG; CDG1M; CDG-Im; CDG syndrome type Im (ORPHA:91131)
Gene: DOLK
Phenotype: Seizure (HP:0001250)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im (OMIM:610768)
Gene: DOLK
Phenotype: Seizure (HP:0001250)
Associated disease: Hypotonia and ichthyosis due to dolichol phosphate deficiency; Congenital disorder of glycosylation type 1m; Congenital disorder of glycosylation type Im; Dolichol kinase deficiency; Carbohydrate deficient glycoprotein syndrome type Im; DK1-CDG; CDG1M; CDG-Im; CDG syndrome type Im (ORPHA:91131)
Gene: DOLK
Phenotype: Hypotonia (HP:0001252)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im (OMIM:610768)
Gene: DOLK
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Hypotonia and ichthyosis due to dolichol phosphate deficiency; Congenital disorder of glycosylation type 1m; Congenital disorder of glycosylation type Im; Dolichol kinase deficiency; Carbohydrate deficient glycoprotein syndrome type Im; DK1-CDG; CDG1M; CDG-Im; CDG syndrome type Im (ORPHA:91131)
Gene: DOLK
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: Hypotonia and ichthyosis due to dolichol phosphate deficiency; Congenital disorder of glycosylation type 1m; Congenital disorder of glycosylation type Im; Dolichol kinase deficiency; Carbohydrate deficient glycoprotein syndrome type Im; DK1-CDG; CDG1M; CDG-Im; CDG syndrome type Im (ORPHA:91131)
Gene: DOLK
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: Hypotonia and ichthyosis due to dolichol phosphate deficiency; Congenital disorder of glycosylation type 1m; Congenital disorder of glycosylation type Im; Dolichol kinase deficiency; Carbohydrate deficient glycoprotein syndrome type Im; DK1-CDG; CDG1M; CDG-Im; CDG syndrome type Im (ORPHA:91131)
Gene: DOLK
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im (OMIM:610768)
Gene: DOLK
Phenotype: Delayed ability to stand (HP:0025335)
Associated disease: Hypotonia and ichthyosis due to dolichol phosphate deficiency; Congenital disorder of glycosylation type 1m; Congenital disorder of glycosylation type Im; Dolichol kinase deficiency; Carbohydrate deficient glycoprotein syndrome type Im; DK1-CDG; CDG1M; CDG-Im; CDG syndrome type Im (ORPHA:91131)
Gene: DOLK
Phenotype: Absent speech (HP:0001344)
Associated disease: Hypotonia and ichthyosis due to dolichol phosphate deficiency; Congenital disorder of glycosylation type 1m; Congenital disorder of glycosylation type Im; Dolichol kinase deficiency; Carbohydrate deficient glycoprotein syndrome type Im; DK1-CDG; CDG1M; CDG-Im; CDG syndrome type Im (ORPHA:91131)
Gene: DOLK
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im (OMIM:610768)
Gene: DOLK
Phenotype: Floppy infant (HP:0008947)
Associated disease: Hypotonia and ichthyosis due to dolichol phosphate deficiency; Congenital disorder of glycosylation type 1m; Congenital disorder of glycosylation type Im; Dolichol kinase deficiency; Carbohydrate deficient glycoprotein syndrome type Im; DK1-CDG; CDG1M; CDG-Im; CDG syndrome type Im (ORPHA:91131)
Gene: DOLK
Phenotype: Diarrhea (HP:0002014)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im (OMIM:610768)
Gene: DOLK
Phenotype: Vomiting (HP:0002013)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im (OMIM:610768)
Gene: DOLK
Phenotype: Progressive muscle weakness (HP:0003323)
Associated disease: Hypotonia and ichthyosis due to dolichol phosphate deficiency; Congenital disorder of glycosylation type 1m; Congenital disorder of glycosylation type Im; Dolichol kinase deficiency; Carbohydrate deficient glycoprotein syndrome type Im; DK1-CDG; CDG1M; CDG-Im; CDG syndrome type Im (ORPHA:91131)
Gene: DOLK
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Hypotonia and ichthyosis due to dolichol phosphate deficiency; Congenital disorder of glycosylation type 1m; Congenital disorder of glycosylation type Im; Dolichol kinase deficiency; Carbohydrate deficient glycoprotein syndrome type Im; DK1-CDG; CDG1M; CDG-Im; CDG syndrome type Im (ORPHA:91131)
Gene: DOLK
Phenotype: Lipoatrophy (HP:0100578)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: DOLK
Phenotype: EMG abnormality (HP:0003457)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: DOLK
Phenotype: Infantile onset (HP:0003593)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im (OMIM:610768)
Gene: DOLK
Phenotype: Congenital onset (HP:0003577)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im (OMIM:610768)
Gene: DOLK
Phenotype: Multifocal epileptiform discharges (HP:0010841)
Associated disease: Hypotonia and ichthyosis due to dolichol phosphate deficiency; Congenital disorder of glycosylation type 1m; Congenital disorder of glycosylation type Im; Dolichol kinase deficiency; Carbohydrate deficient glycoprotein syndrome type Im; DK1-CDG; CDG1M; CDG-Im; CDG syndrome type Im (ORPHA:91131)
Gene: DOLK
Phenotype: EEG with generalized slow activity (HP:0010845)
Associated disease: Hypotonia and ichthyosis due to dolichol phosphate deficiency; Congenital disorder of glycosylation type 1m; Congenital disorder of glycosylation type Im; Dolichol kinase deficiency; Carbohydrate deficient glycoprotein syndrome type Im; DK1-CDG; CDG1M; CDG-Im; CDG syndrome type Im (ORPHA:91131)
Gene: DOLK
Phenotype: Type I transferrin isoform profile (HP:0003642)
Associated disease: Hypotonia and ichthyosis due to dolichol phosphate deficiency; Congenital disorder of glycosylation type 1m; Congenital disorder of glycosylation type Im; Dolichol kinase deficiency; Carbohydrate deficient glycoprotein syndrome type Im; DK1-CDG; CDG1M; CDG-Im; CDG syndrome type Im (ORPHA:91131)
Gene: DOLK
Phenotype: Type I transferrin isoform profile (HP:0003642)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im (OMIM:610768)
Gene: DOLK
Phenotype: Severe muscular hypotonia (HP:0006829)
Associated disease: Hypotonia and ichthyosis due to dolichol phosphate deficiency; Congenital disorder of glycosylation type 1m; Congenital disorder of glycosylation type Im; Dolichol kinase deficiency; Carbohydrate deficient glycoprotein syndrome type Im; DK1-CDG; CDG1M; CDG-Im; CDG syndrome type Im (ORPHA:91131)
Gene: DOLK
Phenotype: Nystagmus (HP:0000639)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im (OMIM:610768)
Gene: DOLK
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease: Hypotonia and ichthyosis due to dolichol phosphate deficiency; Congenital disorder of glycosylation type 1m; Congenital disorder of glycosylation type Im; Dolichol kinase deficiency; Carbohydrate deficient glycoprotein syndrome type Im; DK1-CDG; CDG1M; CDG-Im; CDG syndrome type Im (ORPHA:91131)
Gene: DOLK
Phenotype: Sparse eyelashes (HP:0000653)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im (OMIM:610768)
Gene: DOLK
Phenotype: Hypoketotic hypoglycemia (HP:0001985)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im (OMIM:610768)
Gene: DOLK
Phenotype: Short stature (HP:0004322)
Associated disease: Hypotonia and ichthyosis due to dolichol phosphate deficiency; Congenital disorder of glycosylation type 1m; Congenital disorder of glycosylation type Im; Dolichol kinase deficiency; Carbohydrate deficient glycoprotein syndrome type Im; DK1-CDG; CDG1M; CDG-Im; CDG syndrome type Im (ORPHA:91131)
Gene: DOLK
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: Hypotonia and ichthyosis due to dolichol phosphate deficiency; Congenital disorder of glycosylation type 1m; Congenital disorder of glycosylation type Im; Dolichol kinase deficiency; Carbohydrate deficient glycoprotein syndrome type Im; DK1-CDG; CDG1M; CDG-Im; CDG syndrome type Im (ORPHA:91131)
Gene: DOLK
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Hypotonia and ichthyosis due to dolichol phosphate deficiency; Congenital disorder of glycosylation type 1m; Congenital disorder of glycosylation type Im; Dolichol kinase deficiency; Carbohydrate deficient glycoprotein syndrome type Im; DK1-CDG; CDG1M; CDG-Im; CDG syndrome type Im (ORPHA:91131)
Gene: DOLK
Phenotype: Orthopnea (HP:0012764)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: DOLK
Phenotype: Increased circulating free fatty acid level (HP:0030781)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im (OMIM:610768)
Gene: DOLK
Phenotype: Myopathy (HP:0003198)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: DOLK
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: Hypotonia and ichthyosis due to dolichol phosphate deficiency; Congenital disorder of glycosylation type 1m; Congenital disorder of glycosylation type Im; Dolichol kinase deficiency; Carbohydrate deficient glycoprotein syndrome type Im; DK1-CDG; CDG1M; CDG-Im; CDG syndrome type Im (ORPHA:91131)
Gene: DOLK
Phenotype: Sparse eyebrow (HP:0045075)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im (OMIM:610768)
Gene: DOLK
Phenotype: Dry skin (HP:0000958)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im (OMIM:610768)
Gene: DOLK
Phenotype: Edema (HP:0000969)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: DOLK
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im (OMIM:610768)
Gene: DOLK
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Hypotonia and ichthyosis due to dolichol phosphate deficiency; Congenital disorder of glycosylation type 1m; Congenital disorder of glycosylation type Im; Dolichol kinase deficiency; Carbohydrate deficient glycoprotein syndrome type Im; DK1-CDG; CDG1M; CDG-Im; CDG syndrome type Im (ORPHA:91131)
Gene: DOLK
Phenotype: Ichthyosis (HP:0008064)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im (OMIM:610768)
Gene: DOLK
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: DOLK
Phenotype: Arrhythmia (HP:0011675)
Associated disease: Hypotonia and ichthyosis due to dolichol phosphate deficiency; Congenital disorder of glycosylation type 1m; Congenital disorder of glycosylation type Im; Dolichol kinase deficiency; Carbohydrate deficient glycoprotein syndrome type Im; DK1-CDG; CDG1M; CDG-Im; CDG syndrome type Im (ORPHA:91131)
Gene: DOLK
Phenotype: Alopecia (HP:0001596)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im (OMIM:610768)
Gene: DOLK
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: Hypotonia and ichthyosis due to dolichol phosphate deficiency; Congenital disorder of glycosylation type 1m; Congenital disorder of glycosylation type Im; Dolichol kinase deficiency; Carbohydrate deficient glycoprotein syndrome type Im; DK1-CDG; CDG1M; CDG-Im; CDG syndrome type Im (ORPHA:91131)
Gene: DOLK
Phenotype: Cardiomyocyte hypertrophy (HP:0031319)
Associated disease: Hypotonia and ichthyosis due to dolichol phosphate deficiency; Congenital disorder of glycosylation type 1m; Congenital disorder of glycosylation type Im; Dolichol kinase deficiency; Carbohydrate deficient glycoprotein syndrome type Im; DK1-CDG; CDG1M; CDG-Im; CDG syndrome type Im (ORPHA:91131)
Gene: DOLK
Phenotype: Interstitial cardiac fibrosis (HP:0031329)
Associated disease: Hypotonia and ichthyosis due to dolichol phosphate deficiency; Congenital disorder of glycosylation type 1m; Congenital disorder of glycosylation type Im; Dolichol kinase deficiency; Carbohydrate deficient glycoprotein syndrome type Im; DK1-CDG; CDG1M; CDG-Im; CDG syndrome type Im (ORPHA:91131)
Gene: DOLK
Phenotype: Exertional dyspnea (HP:0002875)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: DOLK
Phenotype: Death in infancy (HP:0001522)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im (OMIM:610768)
Gene: DOLK
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im (OMIM:610768)
Gene: DOLK
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Hypotonia and ichthyosis due to dolichol phosphate deficiency; Congenital disorder of glycosylation type 1m; Congenital disorder of glycosylation type Im; Dolichol kinase deficiency; Carbohydrate deficient glycoprotein syndrome type Im; DK1-CDG; CDG1M; CDG-Im; CDG syndrome type Im (ORPHA:91131)
Gene: DOLK
Phenotype: Aspiration (HP:0002835)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im (OMIM:610768)
Gene: DOLK
Phenotype: Fatigue (HP:0012378)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: DOLK
Phenotype: Abnormal circulating enzyme concentration or activity (HP:0012379)
Associated disease: Hypotonia and ichthyosis due to dolichol phosphate deficiency; Congenital disorder of glycosylation type 1m; Congenital disorder of glycosylation type Im; Dolichol kinase deficiency; Carbohydrate deficient glycoprotein syndrome type Im; DK1-CDG; CDG1M; CDG-Im; CDG syndrome type Im (ORPHA:91131)
Gene: DOLK
Phenotype: Elevated circulating hepatic transaminase concentration (HP:0002910)
Associated disease: Hypotonia and ichthyosis due to dolichol phosphate deficiency; Congenital disorder of glycosylation type 1m; Congenital disorder of glycosylation type Im; Dolichol kinase deficiency; Carbohydrate deficient glycoprotein syndrome type Im; DK1-CDG; CDG1M; CDG-Im; CDG syndrome type Im (ORPHA:91131)
Gene: DOLK
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: DOLK
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: Hypotonia and ichthyosis due to dolichol phosphate deficiency; Congenital disorder of glycosylation type 1m; Congenital disorder of glycosylation type Im; Dolichol kinase deficiency; Carbohydrate deficient glycoprotein syndrome type Im; DK1-CDG; CDG1M; CDG-Im; CDG syndrome type Im (ORPHA:91131)
Gene: DOLK
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im (OMIM:610768)
Gene: DOLK
Phenotype: Bradycardia (HP:0001662)
Associated disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im (OMIM:610768)
Gene: DOLK
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: DOLK
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Hypotonia and ichthyosis due to dolichol phosphate deficiency; Congenital disorder of glycosylation type 1m; Congenital disorder of glycosylation type Im; Dolichol kinase deficiency; Carbohydrate deficient glycoprotein syndrome type Im; DK1-CDG; CDG1M; CDG-Im; CDG syndrome type Im (ORPHA:91131)
Gene: DOLK
Phenotype: Thromboembolic stroke (HP:0001727)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)
Gene: DOLK
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Familial or idiopathic dilated cardiomyopathy; Familial isolated dilated cardiomyopathy (ORPHA:154)