TaoMedAI/RareMedData huggingface dataset:
Gene: TUBA1A
Phenotype: Spasticity (HP:0001257)
Associated disease: Lissencephaly due to TUBA1A mutation (ORPHA:171680)
Gene: TUBA1A
Phenotype: Periventricular laminar heterotopia (HP:0032389)
Associated disease: LISSENCEPHALY 3 (OMIM:611603)
Gene: TUBA1A
Phenotype: Dysgyria (HP:0032398)
Associated disease: Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome; Tubulinopathy-associated dysgyria (ORPHA:467166)
Gene: TUBA1A
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: Lissencephaly due to TUBA1A mutation (ORPHA:171680)
Gene: TUBA1A
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: LISSENCEPHALY 3 (OMIM:611603)
Gene: TUBA1A
Phenotype: Absent Bell phenomenon (HP:6000709)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBA1A
Phenotype: Hypogonadotropic hypogonadism (HP:0000044)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBA1A
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBA1A
Phenotype: Abnormal pupil shape (HP:0025309)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBA1A
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: TUBA1A
Phenotype: Lissencephaly (HP:0001339)
Associated disease: LISSENCEPHALY 3 (OMIM:611603)
Gene: TUBA1A
Phenotype: Lissencephaly (HP:0001339)
Associated disease: Lissencephaly due to TUBA1A mutation (ORPHA:171680)
Gene: TUBA1A
Phenotype: Partial agenesis of the corpus callosum (HP:0001338)
Associated disease: Lissencephaly due to TUBA1A mutation (ORPHA:171680)
Gene: TUBA1A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LISSENCEPHALY 3 (OMIM:611603)
Gene: TUBA1A
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: TUBA1A
Phenotype: Pachygyria (HP:0001302)
Associated disease: LISSENCEPHALY 3 (OMIM:611603)
Gene: TUBA1A
Phenotype: Pachygyria (HP:0001302)
Associated disease: Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome; Tubulinopathy-associated dysgyria (ORPHA:467166)
Gene: TUBA1A
Phenotype: Pachygyria (HP:0001302)
Associated disease: Lissencephaly due to TUBA1A mutation (ORPHA:171680)
Gene: TUBA1A
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: LISSENCEPHALY 3 (OMIM:611603)
Gene: TUBA1A
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome; Tubulinopathy-associated dysgyria (ORPHA:467166)
Gene: TUBA1A
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: Lissencephaly due to TUBA1A mutation (ORPHA:171680)
Gene: TUBA1A
Phenotype: Scoliosis (HP:0002650)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: TUBA1A
Phenotype: Aplasia of the olfactory bulb (HP:0032466)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBA1A
Phenotype: Congenital fibrosis of extraocular muscles (HP:0001491)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBA1A
Phenotype: Bilateral ptosis (HP:0001488)
Associated disease: Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome; Tubulinopathy-associated dysgyria (ORPHA:467166)
Gene: TUBA1A
Phenotype: Cleft palate (HP:0000175)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: TUBA1A
Phenotype: Compensatory chin elevation (HP:0001477)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBA1A
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome; Tubulinopathy-associated dysgyria (ORPHA:467166)
Gene: TUBA1A
Phenotype: Vomiting (HP:0002013)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBA1A
Phenotype: Abnormal morphology of the olfactory bulb (HP:0040327)
Associated disease: Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome; Tubulinopathy-associated dysgyria (ORPHA:467166)
Gene: TUBA1A
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: TUBA1A
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: TUBA1A
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Lissencephaly due to TUBA1A mutation (ORPHA:171680)
Gene: TUBA1A
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: LISSENCEPHALY 3 (OMIM:611603)
Gene: TUBA1A
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: LISSENCEPHALY 3 (OMIM:611603)
Gene: TUBA1A
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Lissencephaly due to TUBA1A mutation (ORPHA:171680)
Gene: TUBA1A
Phenotype: Absent palmar crease (HP:0010489)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: TUBA1A
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome; Tubulinopathy-associated dysgyria (ORPHA:467166)
Gene: TUBA1A
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: LISSENCEPHALY 3 (OMIM:611603)
Gene: TUBA1A
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome; Tubulinopathy-associated dysgyria (ORPHA:467166)
Gene: TUBA1A
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Lissencephaly due to TUBA1A mutation (ORPHA:171680)
Gene: TUBA1A
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBA1A
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: LISSENCEPHALY 3 (OMIM:611603)
Gene: TUBA1A
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: Lissencephaly due to TUBA1A mutation (ORPHA:171680)
Gene: TUBA1A
Phenotype: Dilated fourth ventricle (HP:0002198)
Associated disease: Lissencephaly due to TUBA1A mutation (ORPHA:171680)
Gene: TUBA1A
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBA1A
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: TUBA1A
Phenotype: Congenital onset (HP:0003577)
Associated disease: LISSENCEPHALY 3 (OMIM:611603)
Gene: TUBA1A
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: Lissencephaly due to TUBA1A mutation (ORPHA:171680)
Gene: TUBA1A
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: LISSENCEPHALY 3 (OMIM:611603)
Gene: TUBA1A
Phenotype: Abnormal thalamus morphology (HP:0010663)
Associated disease: Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome; Tubulinopathy-associated dysgyria (ORPHA:467166)
Gene: TUBA1A
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome; Tubulinopathy-associated dysgyria (ORPHA:467166)
Gene: TUBA1A
Phenotype: Pterygium (HP:0001059)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: TUBA1A
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: LISSENCEPHALY 3 (OMIM:611603)
Gene: TUBA1A
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: Lissencephaly due to TUBA1A mutation (ORPHA:171680)
Gene: TUBA1A
Phenotype: Abnormal brainstem morphology (HP:0002363)
Associated disease: Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome; Tubulinopathy-associated dysgyria (ORPHA:467166)
Gene: TUBA1A
Phenotype: Hypokinesia (HP:0002375)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: TUBA1A
Phenotype: Congenital sensorineural hearing impairment (HP:0008527)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBA1A
Phenotype: Generalized tonic seizure (HP:0010818)
Associated disease: LISSENCEPHALY 3 (OMIM:611603)
Gene: TUBA1A
Phenotype: Neonatal onset (HP:0003623)
Associated disease: LISSENCEPHALY 3 (OMIM:611603)
Gene: TUBA1A
Phenotype: Akinesia (HP:0002304)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: TUBA1A
Phenotype: Abnormal best corrected visual acuity test (HP:0030534)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBA1A
Phenotype: Agyria (HP:0031882)
Associated disease: Lissencephaly due to TUBA1A mutation (ORPHA:171680)
Gene: TUBA1A
Phenotype: Agyria (HP:0031882)
Associated disease: Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome; Tubulinopathy-associated dysgyria (ORPHA:467166)
Gene: TUBA1A
Phenotype: Agyria (HP:0031882)
Associated disease: LISSENCEPHALY 3 (OMIM:611603)
Gene: TUBA1A
Phenotype: Hypoplastic anterior limbs of the internal capsule (HP:0034051)
Associated disease: Lissencephaly due to TUBA1A mutation (ORPHA:171680)
Gene: TUBA1A
Phenotype: Nystagmus (HP:0000639)
Associated disease: Lissencephaly due to TUBA1A mutation (ORPHA:171680)
Gene: TUBA1A
Phenotype: Amblyopia (HP:0000646)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBA1A
Phenotype: Miosis (HP:0000616)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBA1A
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBA1A
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: Lissencephaly due to TUBA1A mutation (ORPHA:171680)
Gene: TUBA1A
Phenotype: Abnormality of ocular abduction (HP:0011347)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBA1A
Phenotype: Perisylvian polymicrogyria (HP:0012650)
Associated disease: Lissencephaly due to TUBA1A mutation (ORPHA:171680)
Gene: TUBA1A
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome; Tubulinopathy-associated dysgyria (ORPHA:467166)
Gene: TUBA1A
Phenotype: Fetal akinesia sequence (HP:0001989)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: TUBA1A
Phenotype: Dysplastic corpus callosum (HP:0006989)
Associated disease: Lissencephaly due to TUBA1A mutation (ORPHA:171680)
Gene: TUBA1A
Phenotype: Abnormal visual field test (HP:0030588)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBA1A
Phenotype: Finger aplasia (HP:0009380)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBA1A
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome; Tubulinopathy-associated dysgyria (ORPHA:467166)
Gene: TUBA1A
Phenotype: Levator palpebrae superioris atrophy (HP:0012241)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBA1A
Phenotype: Multiple joint contractures (HP:0002828)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: TUBA1A
Phenotype: Arthrogryposis multiplex congenita (HP:0002804)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: TUBA1A
Phenotype: Microcephaly (HP:0000252)
Associated disease: Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome; Tubulinopathy-associated dysgyria (ORPHA:467166)
Gene: TUBA1A
Phenotype: Microcephaly (HP:0000252)
Associated disease: LISSENCEPHALY 3 (OMIM:611603)
Gene: TUBA1A
Phenotype: Microcephaly (HP:0000252)
Associated disease: Lissencephaly due to TUBA1A mutation (ORPHA:171680)
Gene: TUBA1A
Phenotype: Hypoplastic hippocampus (HP:0025517)
Associated disease: Lissencephaly due to TUBA1A mutation (ORPHA:171680)
Gene: TUBA1A
Phenotype: Polyhydramnios (HP:0001561)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: TUBA1A
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: TUBA1A
Phenotype: Nonprogressive restrictive external ophthalmoplegia (HP:0007831)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBA1A
Phenotype: Intestinal hypoplasia (HP:0005245)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: TUBA1A
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: TUBA1A
Phenotype: Micrognathia (HP:0000347)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: TUBA1A
Phenotype: Hypertelorism (HP:0000316)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: TUBA1A
Phenotype: Microretrognathia (HP:0000308)
Associated disease: Lissencephaly due to TUBA1A mutation (ORPHA:171680)
Gene: TUBA1A
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: TUBA1A
Phenotype: Strabismus (HP:0000486)
Associated disease: Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome; Tubulinopathy-associated dysgyria (ORPHA:467166)
Gene: TUBA1A
Phenotype: Strabismus (HP:0000486)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBA1A
Phenotype: Strabismus (HP:0000486)
Associated disease: Lissencephaly due to TUBA1A mutation (ORPHA:171680)
Gene: TUBA1A
Phenotype: Slow pupillary light response (HP:0030211)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBA1A
Phenotype: Infantile spasms (HP:0012469)
Associated disease: Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome; Tubulinopathy-associated dysgyria (ORPHA:467166)
Gene: TUBA1A
Phenotype: Infantile spasms (HP:0012469)
Associated disease: Lissencephaly due to TUBA1A mutation (ORPHA:171680)
Gene: TUBA1A
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: FADS; Fetal akinesia deformation sequence; Pena-Shokeir syndrome type 1; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome (ORPHA:994)
Gene: TUBA1A
Phenotype: Torticollis (HP:0000473)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBA1A
Phenotype: Limited vertical extraocular movement (HP:0025721)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBA1A
Phenotype: Abnormality of the internal capsule (HP:0012502)
Associated disease: Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome; Tubulinopathy-associated dysgyria (ORPHA:467166)
Gene: TUBA1A
Phenotype: Cataract (HP:0000518)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBA1A
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBA1A
Phenotype: Ptosis (HP:0000508)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBA1A
Phenotype: Exotropia (HP:0000577)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBA1A
Phenotype: Abnormal involuntary eye movements (HP:0012547)
Associated disease: Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome; Tubulinopathy-associated dysgyria (ORPHA:467166)
Gene: TUBA1A
Phenotype: Abnormal involuntary eye movements (HP:0012547)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBA1A
Phenotype: Esotropia (HP:0000565)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBA1A
Phenotype: Abnormality of refraction (HP:0000539)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBA1A
Phenotype: Impaired ocular adduction (HP:0000542)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: PAX8
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Thyroid hypoplasia (ORPHA:95720)
Gene: PAX8
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Athyreosis (ORPHA:95713)
Gene: PAX8
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Thyroid ectopia (ORPHA:95712)
Gene: PAX8
Phenotype: Lethargy (HP:0001254)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2 (OMIM:218700)
Gene: PAX8
Phenotype: Lethargy (HP:0001254)
Associated disease: Athyreosis (ORPHA:95713)
Gene: PAX8
Phenotype: Hypotonia (HP:0001252)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2 (OMIM:218700)
Gene: PAX8
Phenotype: Hypotonia (HP:0001252)
Associated disease: Thyroid hypoplasia (ORPHA:95720)
Gene: PAX8
Phenotype: Hypotonia (HP:0001252)
Associated disease: Athyreosis (ORPHA:95713)
Gene: PAX8
Phenotype: Hypotonia (HP:0001252)
Associated disease: Thyroid ectopia (ORPHA:95712)
Gene: PAX8
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Thyroid hypoplasia (ORPHA:95720)
Gene: PAX8
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Athyreosis (ORPHA:95713)
Gene: PAX8
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Thyroid ectopia (ORPHA:95712)
Gene: PAX8
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2 (OMIM:218700)
Gene: PAX8
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Athyreosis (ORPHA:95713)
Gene: PAX8
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Thyroid ectopia (ORPHA:95712)
Gene: PAX8
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2 (OMIM:218700)
Gene: PAX8
Phenotype: Increased circulating thyroglobulin concentration (HP:0025484)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2 (OMIM:218700)
Gene: PAX8
Phenotype: Abnormal circulating thyroglobulin concentration (HP:0025483)
Associated disease: Athyreosis (ORPHA:95713)
Gene: PAX8
Phenotype: Cold intolerance (HP:6000855)
Associated disease: Thyroid ectopia (ORPHA:95712)
Gene: PAX8
Phenotype: Macroglossia (HP:0000158)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2 (OMIM:218700)
Gene: PAX8
Phenotype: Macroglossia (HP:0000158)
Associated disease: Thyroid hypoplasia (ORPHA:95720)
Gene: PAX8
Phenotype: Macroglossia (HP:0000158)
Associated disease: Athyreosis (ORPHA:95713)
Gene: PAX8
Phenotype: Macroglossia (HP:0000158)
Associated disease: Thyroid ectopia (ORPHA:95712)
Gene: PAX8
Phenotype: Coldness (HP:0033850)
Associated disease: Athyreosis (ORPHA:95713)
Gene: PAX8
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2 (OMIM:218700)
Gene: PAX8
Phenotype: Constipation (HP:0002019)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2 (OMIM:218700)
Gene: PAX8
Phenotype: Constipation (HP:0002019)
Associated disease: Thyroid hypoplasia (ORPHA:95720)
Gene: PAX8
Phenotype: Constipation (HP:0002019)
Associated disease: Athyreosis (ORPHA:95713)
Gene: PAX8
Phenotype: Constipation (HP:0002019)
Associated disease: Thyroid ectopia (ORPHA:95712)
Gene: PAX8
Phenotype: Thyroid hypoplasia (HP:0005990)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2 (OMIM:218700)
Gene: PAX8
Phenotype: Thyroid hypoplasia (HP:0005990)
Associated disease: Thyroid hypoplasia (ORPHA:95720)
Gene: PAX8
Phenotype: Dysphagia (HP:0002015)
Associated disease: Thyroid ectopia (ORPHA:95712)
Gene: PAX8
Phenotype: Hypothermia (HP:0002045)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2 (OMIM:218700)
Gene: PAX8
Phenotype: Thyroid agenesis (HP:0008191)
Associated disease: Athyreosis (ORPHA:95713)
Gene: PAX8
Phenotype: Thyroid agenesis (HP:0008191)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2 (OMIM:218700)
Gene: PAX8
Phenotype: Unconjugated hyperbilirubinemia (HP:0008282)
Associated disease: Athyreosis (ORPHA:95713)
Gene: PAX8
Phenotype: Congenital onset (HP:0003577)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2 (OMIM:218700)
Gene: PAX8
Phenotype: Hypersomnia (HP:0100786)
Associated disease: Athyreosis (ORPHA:95713)
Gene: PAX8
Phenotype: Hypersomnia (HP:0100786)
Associated disease: Thyroid ectopia (ORPHA:95712)
Gene: PAX8
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Athyreosis (ORPHA:95713)
Gene: PAX8
Phenotype: Neonatal onset (HP:0003623)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2 (OMIM:218700)
Gene: PAX8
Phenotype: Juvenile onset (HP:0003621)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2 (OMIM:218700)
Gene: PAX8
Phenotype: Short stature (HP:0004322)
Associated disease: Thyroid hypoplasia (ORPHA:95720)
Gene: PAX8
Phenotype: Short stature (HP:0004322)
Associated disease: Athyreosis (ORPHA:95713)
Gene: PAX8
Phenotype: Short stature (HP:0004322)
Associated disease: Thyroid ectopia (ORPHA:95712)
Gene: PAX8
Phenotype: Ectopic thyroid (HP:0100028)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2 (OMIM:218700)
Gene: PAX8
Phenotype: Ectopic thyroid (HP:0100028)
Associated disease: Thyroid ectopia (ORPHA:95712)
Gene: PAX8
Phenotype: Lingual thyroid (HP:0100029)
Associated disease: Thyroid ectopia (ORPHA:95712)
Gene: PAX8
Phenotype: Large posterior fontanelle (HP:0004491)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2 (OMIM:218700)
Gene: PAX8
Phenotype: Congenital hypothyroidism (HP:0000851)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2 (OMIM:218700)
Gene: PAX8
Phenotype: Goiter (HP:0000853)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2 (OMIM:218700)
Gene: PAX8
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 2 (OMIM:218700)