TaoMedAI/RareMedData huggingface dataset:
Gene: PCDH12
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 1 (OMIM:251280)
Gene: PCDH12
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 1 (OMIM:251280)
Gene: PCDH12
Phenotype: Dystonia (HP:0001332)
Associated disease: DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 1 (OMIM:251280)
Gene: PCDH12
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 1 (OMIM:251280)
Gene: PCDH12
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 1 (OMIM:251280)
Gene: PCDH12
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 1 (OMIM:251280)
Gene: PCDH12
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 1 (OMIM:251280)
Gene: PCDH12
Phenotype: Focal clonic seizure (HP:0002266)
Associated disease: DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 1 (OMIM:251280)
Gene: PCDH12
Phenotype: Infantile onset (HP:0003593)
Associated disease: DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 1 (OMIM:251280)
Gene: PCDH12
Phenotype: Antenatal onset (HP:0030674)
Associated disease: DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 1 (OMIM:251280)
Gene: PCDH12
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 1 (OMIM:251280)
Gene: PCDH12
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 1 (OMIM:251280)
Gene: PCDH12
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 1 (OMIM:251280)
Gene: PCDH12
Phenotype: Tonic seizure (HP:0032792)
Associated disease: DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 1 (OMIM:251280)
Gene: PCDH12
Phenotype: Premature birth (HP:0001622)
Associated disease: DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 1 (OMIM:251280)
Gene: PCDH12
Phenotype: Infantile spasms (HP:0012469)
Associated disease: DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 1 (OMIM:251280)
Gene: PCDH12
Phenotype: Visual impairment (HP:0000505)
Associated disease: DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 1 (OMIM:251280)
Gene: TIMMDC1
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: TIMMDC1
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: TIMMDC1
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: TIMMDC1
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: TIMMDC1
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: TIMMDC1
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: TIMMDC1
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: TIMMDC1
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: TIMMDC1
Phenotype: Seizure (HP:0001250)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31 (OMIM:618251)
Gene: TIMMDC1
Phenotype: Hypotonia (HP:0001252)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31 (OMIM:618251)
Gene: TIMMDC1
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: TIMMDC1
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: TIMMDC1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31 (OMIM:618251)
Gene: TIMMDC1
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: TIMMDC1
Phenotype: Death in childhood (HP:0003819)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31 (OMIM:618251)
Gene: TIMMDC1
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31 (OMIM:618251)
Gene: TIMMDC1
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: TIMMDC1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31 (OMIM:618251)
Gene: TIMMDC1
Phenotype: Myoclonus (HP:0001336)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31 (OMIM:618251)
Gene: TIMMDC1
Phenotype: Dysmetria (HP:0001310)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31 (OMIM:618251)
Gene: TIMMDC1
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: TIMMDC1
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: TIMMDC1
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: TIMMDC1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31 (OMIM:618251)
Gene: TIMMDC1
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: TIMMDC1
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31 (OMIM:618251)
Gene: TIMMDC1
Phenotype: Infantile onset (HP:0003593)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31 (OMIM:618251)
Gene: TIMMDC1
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: TIMMDC1
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: TIMMDC1
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31 (OMIM:618251)
Gene: TIMMDC1
Phenotype: Enlarged cisterna magna (HP:0002280)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31 (OMIM:618251)
Gene: TIMMDC1
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: TIMMDC1
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: TIMMDC1
Phenotype: Progressive neurologic deterioration (HP:0002344)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31 (OMIM:618251)
Gene: TIMMDC1
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: TIMMDC1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31 (OMIM:618251)
Gene: TIMMDC1
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: TIMMDC1
Phenotype: Nystagmus (HP:0000639)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31 (OMIM:618251)
Gene: TIMMDC1
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: TIMMDC1
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: TIMMDC1
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: TIMMDC1
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: TIMMDC1
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: TIMMDC1
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: TIMMDC1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31 (OMIM:618251)
Gene: TIMMDC1
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: TIMMDC1
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: TIMMDC1
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: TIMMDC1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31 (OMIM:618251)
Gene: TIMMDC1
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: TIMMDC1
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: TIMMDC1
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: TIMMDC1
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31 (OMIM:618251)
Gene: TIMMDC1
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: TIMMDC1
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: TIMMDC1
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: KCNK9
Phenotype: Spinal muscular atrophy (HP:0007269)
Associated disease: KCNK9 imprinting syndrome; Intellectual disability-hypotonia-facial dysmorphism syndrome; Birk-Barel syndrome; Birk-Barel Intellectual Disability-Dimorphism syndrome (ORPHA:166108)
Gene: KCNK9
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: BIRK-BAREL SYNDROME (OMIM:612292)
Gene: KCNK9
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: KCNK9 imprinting syndrome; Intellectual disability-hypotonia-facial dysmorphism syndrome; Birk-Barel syndrome; Birk-Barel Intellectual Disability-Dimorphism syndrome (ORPHA:166108)
Gene: KCNK9
Phenotype: Areflexia (HP:0001284)
Associated disease: KCNK9 imprinting syndrome; Intellectual disability-hypotonia-facial dysmorphism syndrome; Birk-Barel syndrome; Birk-Barel Intellectual Disability-Dimorphism syndrome (ORPHA:166108)
Gene: KCNK9
Phenotype: Hypotonia (HP:0001252)
Associated disease: BIRK-BAREL SYNDROME (OMIM:612292)
Gene: KCNK9
Phenotype: Intellectual disability (HP:0001249)
Associated disease: BIRK-BAREL SYNDROME (OMIM:612292)
Gene: KCNK9
Phenotype: Global developmental delay (HP:0001263)
Associated disease: KCNK9 imprinting syndrome; Intellectual disability-hypotonia-facial dysmorphism syndrome; Birk-Barel syndrome; Birk-Barel Intellectual Disability-Dimorphism syndrome (ORPHA:166108)
Gene: KCNK9
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BIRK-BAREL SYNDROME (OMIM:612292)
Gene: KCNK9
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: KCNK9 imprinting syndrome; Intellectual disability-hypotonia-facial dysmorphism syndrome; Birk-Barel syndrome; Birk-Barel Intellectual Disability-Dimorphism syndrome (ORPHA:166108)
Gene: KCNK9
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: BIRK-BAREL SYNDROME (OMIM:612292)
Gene: KCNK9
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: BIRK-BAREL SYNDROME (OMIM:612292)
Gene: KCNK9
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BIRK-BAREL SYNDROME (OMIM:612292)
Gene: KCNK9
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: KCNK9 imprinting syndrome; Intellectual disability-hypotonia-facial dysmorphism syndrome; Birk-Barel syndrome; Birk-Barel Intellectual Disability-Dimorphism syndrome (ORPHA:166108)
Gene: KCNK9
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: KCNK9 imprinting syndrome; Intellectual disability-hypotonia-facial dysmorphism syndrome; Birk-Barel syndrome; Birk-Barel Intellectual Disability-Dimorphism syndrome (ORPHA:166108)
Gene: KCNK9
Phenotype: Open mouth (HP:0000194)
Associated disease: KCNK9 imprinting syndrome; Intellectual disability-hypotonia-facial dysmorphism syndrome; Birk-Barel syndrome; Birk-Barel Intellectual Disability-Dimorphism syndrome (ORPHA:166108)
Gene: KCNK9
Phenotype: Bifid uvula (HP:0000193)
Associated disease: BIRK-BAREL SYNDROME (OMIM:612292)
Gene: KCNK9
Phenotype: High, narrow palate (HP:0002705)
Associated disease: KCNK9 imprinting syndrome; Intellectual disability-hypotonia-facial dysmorphism syndrome; Birk-Barel syndrome; Birk-Barel Intellectual Disability-Dimorphism syndrome (ORPHA:166108)
Gene: KCNK9
Phenotype: Dysphagia (HP:0002015)
Associated disease: KCNK9 imprinting syndrome; Intellectual disability-hypotonia-facial dysmorphism syndrome; Birk-Barel syndrome; Birk-Barel Intellectual Disability-Dimorphism syndrome (ORPHA:166108)
Gene: KCNK9
Phenotype: Dysphagia (HP:0002015)
Associated disease: BIRK-BAREL SYNDROME (OMIM:612292)
Gene: KCNK9
Phenotype: Submucous cleft soft palate (HP:0011819)
Associated disease: BIRK-BAREL SYNDROME (OMIM:612292)
Gene: KCNK9
Phenotype: Nasogastric tube feeding (HP:0040288)
Associated disease: KCNK9 imprinting syndrome; Intellectual disability-hypotonia-facial dysmorphism syndrome; Birk-Barel syndrome; Birk-Barel Intellectual Disability-Dimorphism syndrome (ORPHA:166108)
Gene: KCNK9
Phenotype: Foot joint contracture (HP:0008366)
Associated disease: KCNK9 imprinting syndrome; Intellectual disability-hypotonia-facial dysmorphism syndrome; Birk-Barel syndrome; Birk-Barel Intellectual Disability-Dimorphism syndrome (ORPHA:166108)
Gene: KCNK9
Phenotype: Motor axonal neuropathy (HP:0007002)
Associated disease: KCNK9 imprinting syndrome; Intellectual disability-hypotonia-facial dysmorphism syndrome; Birk-Barel syndrome; Birk-Barel Intellectual Disability-Dimorphism syndrome (ORPHA:166108)
Gene: KCNK9
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: KCNK9 imprinting syndrome; Intellectual disability-hypotonia-facial dysmorphism syndrome; Birk-Barel syndrome; Birk-Barel Intellectual Disability-Dimorphism syndrome (ORPHA:166108)
Gene: KCNK9
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: KCNK9 imprinting syndrome; Intellectual disability-hypotonia-facial dysmorphism syndrome; Birk-Barel syndrome; Birk-Barel Intellectual Disability-Dimorphism syndrome (ORPHA:166108)
Gene: KCNK9
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease: BIRK-BAREL SYNDROME (OMIM:612292)
Gene: KCNK9
Phenotype: Hyperactivity (HP:0000752)
Associated disease: KCNK9 imprinting syndrome; Intellectual disability-hypotonia-facial dysmorphism syndrome; Birk-Barel syndrome; Birk-Barel Intellectual Disability-Dimorphism syndrome (ORPHA:166108)
Gene: KCNK9
Phenotype: Congenital finger flexion contractures (HP:0005879)
Associated disease: KCNK9 imprinting syndrome; Intellectual disability-hypotonia-facial dysmorphism syndrome; Birk-Barel syndrome; Birk-Barel Intellectual Disability-Dimorphism syndrome (ORPHA:166108)
Gene: KCNK9
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: BIRK-BAREL SYNDROME (OMIM:612292)
Gene: KCNK9
Phenotype: Sacral dimple (HP:0000960)
Associated disease: KCNK9 imprinting syndrome; Intellectual disability-hypotonia-facial dysmorphism syndrome; Birk-Barel syndrome; Birk-Barel Intellectual Disability-Dimorphism syndrome (ORPHA:166108)
Gene: KCNK9
Phenotype: Sacral dimple (HP:0000960)
Associated disease: BIRK-BAREL SYNDROME (OMIM:612292)
Gene: KCNK9
Phenotype: Broad philtrum (HP:0000289)
Associated disease: KCNK9 imprinting syndrome; Intellectual disability-hypotonia-facial dysmorphism syndrome; Birk-Barel syndrome; Birk-Barel Intellectual Disability-Dimorphism syndrome (ORPHA:166108)
Gene: KCNK9
Phenotype: Long face (HP:0000276)
Associated disease: BIRK-BAREL SYNDROME (OMIM:612292)
Gene: KCNK9
Phenotype: Dolichocephaly (HP:0000268)
Associated disease: KCNK9 imprinting syndrome; Intellectual disability-hypotonia-facial dysmorphism syndrome; Birk-Barel syndrome; Birk-Barel Intellectual Disability-Dimorphism syndrome (ORPHA:166108)
Gene: KCNK9
Phenotype: Limited elbow flexion/extension (HP:0005060)
Associated disease: KCNK9 imprinting syndrome; Intellectual disability-hypotonia-facial dysmorphism syndrome; Birk-Barel syndrome; Birk-Barel Intellectual Disability-Dimorphism syndrome (ORPHA:166108)
Gene: KCNK9
Phenotype: High palate (HP:0000218)
Associated disease: BIRK-BAREL SYNDROME (OMIM:612292)
Gene: KCNK9
Phenotype: Incisor macrodontia (HP:0011081)
Associated disease: KCNK9 imprinting syndrome; Intellectual disability-hypotonia-facial dysmorphism syndrome; Birk-Barel syndrome; Birk-Barel Intellectual Disability-Dimorphism syndrome (ORPHA:166108)