TaoMedAI/RareMedData huggingface dataset:
Gene: TRMT10A
Phenotype: Delayed puberty (HP:0000823)
Associated disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1 (OMIM:616033)
Gene: TRMT10A
Phenotype: Osteoporosis (HP:0000939)
Associated disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1 (OMIM:616033)
Gene: TRMT10A
Phenotype: Pes valgus (HP:0008081)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: TRMT10A
Phenotype: Sparse hair (HP:0008070)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: TRMT10A
Phenotype: Deviation of the 5th toe (HP:0010344)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: TRMT10A
Phenotype: Epicanthus (HP:0000286)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: TRMT10A
Phenotype: Full cheeks (HP:0000293)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: TRMT10A
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: TRMT10A
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1 (OMIM:616033)
Gene: TRMT10A
Phenotype: Narrow face (HP:0000275)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: TRMT10A
Phenotype: Small face (HP:0000274)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: TRMT10A
Phenotype: Clinodactyly (HP:0030084)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: TRMT10A
Phenotype: Microcephaly (HP:0000252)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: TRMT10A
Phenotype: Microcephaly (HP:0000252)
Associated disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1 (OMIM:616033)
Gene: TRMT10A
Phenotype: Delayed thelarche (HP:0025515)
Associated disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1 (OMIM:616033)
Gene: TRMT10A
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: TRMT10A
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: TRMT10A
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: TRMT10A
Phenotype: Narrow forehead (HP:0000341)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: TRMT10A
Phenotype: Long philtrum (HP:0000343)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: TRMT10A
Phenotype: Micrognathia (HP:0000347)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: TRMT10A
Phenotype: Round face (HP:0000311)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: TRMT10A
Phenotype: Short philtrum (HP:0000322)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: TRMT10A
Phenotype: Abnormally high-pitched voice (HP:0001620)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: TRMT10A
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: TRMT10A
Phenotype: Macrotia (HP:0000400)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: TRMT10A
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: TRMT10A
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: TRMT10A
Phenotype: Delayed myelination (HP:0012448)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: TRMT10A
Phenotype: Short neck (HP:0000470)
Associated disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1 (OMIM:616033)
Gene: TRMT10A
Phenotype: Short neck (HP:0000470)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: TRMT10A
Phenotype: Wide nose (HP:0000445)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: TRMT10A
Phenotype: Wide nose (HP:0000445)
Associated disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 1 (OMIM:616033)
Gene: TRMT10A
Phenotype: Blue sclerae (HP:0000592)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: CACNA2D4
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CACNA2D4
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINAL CONE DYSTROPHY 4 (OMIM:610478)
Gene: CACNA2D4
Phenotype: Retinal atrophy (HP:0001105)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CACNA2D4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CACNA2D4
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINAL CONE DYSTROPHY 4 (OMIM:610478)
Gene: CACNA2D4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CACNA2D4
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CACNA2D4
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINAL CONE DYSTROPHY 4 (OMIM:610478)
Gene: CACNA2D4
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CACNA2D4
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: CACNA2D4
Phenotype: Dyschromatopsia (HP:0007641)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CACNA2D4
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CACNA2D4
Phenotype: Nystagmus (HP:0000639)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CACNA2D4
Phenotype: Nystagmus (HP:0000639)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: CACNA2D4
Phenotype: Photophobia (HP:0000613)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CACNA2D4
Phenotype: Photophobia (HP:0000613)
Associated disease: RETINAL CONE DYSTROPHY 4 (OMIM:610478)
Gene: CACNA2D4
Phenotype: Central scotoma (HP:0000603)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CACNA2D4
Phenotype: Abnormal dark-adapted electroretinogram (HP:0030469)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: CACNA2D4
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CACNA2D4
Phenotype: Reduced amplitude of dark-adapted bright flash electroretinogram a-wave (HP:0030483)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: CACNA2D4
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CACNA2D4
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CACNA2D4
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: CACNA2D4
Phenotype: Congenital stationary night blindness with abnormal fundus (HP:0030639)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: CACNA2D4
Phenotype: Congenital stationary night blindness with normal fundus (HP:0030638)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: CACNA2D4
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CACNA2D4
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CACNA2D4
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CACNA2D4
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: CACNA2D4
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CACNA2D4
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CACNA2D4
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CACNA2D4
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CACNA2D4
Phenotype: Retinal pigment epithelial mottling (HP:0007814)
Associated disease: RETINAL CONE DYSTROPHY 4 (OMIM:610478)
Gene: CACNA2D4
Phenotype: Retinal thinning (HP:0030329)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: CACNA2D4
Phenotype: Electronegative electroretinogram (HP:0007984)
Associated disease: RETINAL CONE DYSTROPHY 4 (OMIM:610478)
Gene: CACNA2D4
Phenotype: Electronegative electroretinogram (HP:0007984)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: CACNA2D4
Phenotype: Strabismus (HP:0000486)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: CACNA2D4
Phenotype: Compensatory head posture (HP:0031705)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: CACNA2D4
Phenotype: Metamorphopsia (HP:0012508)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CACNA2D4
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CACNA2D4
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CACNA2D4
Phenotype: Visual impairment (HP:0000505)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CACNA2D4
Phenotype: Visual impairment (HP:0000505)
Associated disease: RETINAL CONE DYSTROPHY 4 (OMIM:610478)
Gene: CACNA2D4
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CACNA2D4
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: CACNA2D4
Phenotype: Color vision defect (HP:0000551)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CACNA2D4
Phenotype: Color vision defect (HP:0000551)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: CACNA2D4
Phenotype: Cone/cone-rod dystrophy (HP:0000548)
Associated disease: RETINAL CONE DYSTROPHY 4 (OMIM:610478)
Gene: CACNA2D4
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Cone rod dystrophy (ORPHA:1872)
Gene: CACNA2D4
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CACNA2D4
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CACNA2D4
Phenotype: Myopia (HP:0000545)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: TBCK
Phenotype: Tapered finger (HP:0001182)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Poor speech (HP:0002465)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Fetal pyelectasis (HP:0010945)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Bipolar affective disorder (HP:0007302)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: Acromelia (HP:0010884)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Encephalopathy (HP:0001298)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Motor delay (HP:0001270)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Areflexia (HP:0001284)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Areflexia (HP:0001284)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: Seizure (HP:0001250)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Seizure (HP:0001250)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: Hypotonia (HP:0001252)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Bilateral tonic-clonic seizure with focal onset (HP:0007334)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Inability to walk (HP:0002540)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Abnormal periventricular white matter morphology (HP:0002518)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: Right aortic arch (HP:0012020)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: Multifocal seizures (HP:0031165)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Neurogenic bladder (HP:0000011)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: Absent speech (HP:0001344)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Partial agenesis of the corpus callosum (HP:0001338)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Scoliosis (HP:0002650)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Scoliosis (HP:0002650)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Neonatal hypotonia (HP:0001319)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: Open mouth (HP:0000194)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Macroglossia (HP:0000158)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Macroglossia (HP:0000158)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: High, narrow palate (HP:0002705)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: 2-3 toe syndactyly (HP:0004691)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: Axial muscle weakness (HP:0003327)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Progressive muscle weakness (HP:0003323)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: Intermittent hypothermia (HP:0005964)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: Asthma (HP:0002099)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Hypothermia (HP:0002045)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: Myopathic facies (HP:0002058)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Central adrenal insufficiency (HP:0011734)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Hypertriglyceridemia (HP:0002155)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Status epilepticus (HP:0002133)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: EMG: chronic denervation signs (HP:0003444)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: EMG: chronic denervation signs (HP:0003444)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Exaggerated cupid's bow (HP:0002263)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Infantile onset (HP:0003593)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Congenital onset (HP:0003577)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Cerebral visual impairment (HP:0100704)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Global brain atrophy (HP:0002283)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Global brain atrophy (HP:0002283)
Associated disease: TBCK-related intellectual disability syndrome (ORPHA:488632)
Gene: TBCK
Phenotype: Enlarged cisterna magna (HP:0002280)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Decreased compound muscle action potential amplitude (HP:0033383)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)
Gene: TBCK
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 3 (OMIM:616900)