TaoMedAI/RareMedData huggingface dataset:
Gene: TUBB2B
Phenotype: Bilateral ptosis (HP:0001488)
Associated disease: Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome; Tubulinopathy-associated dysgyria (ORPHA:467166)
Gene: TUBB2B
Phenotype: Compensatory chin elevation (HP:0001477)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBB2B
Phenotype: Floppy infant (HP:0008947)
Associated disease: Polymicrogyria due to TUBB2B mutation (ORPHA:300573)
Gene: TUBB2B
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: TUBB2B
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: Polymicrogyria due to TUBB2B mutation (ORPHA:300573)
Gene: TUBB2B
Phenotype: Vomiting (HP:0002013)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBB2B
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: TUBB2B
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Polymicrogyria due to TUBB2B mutation (ORPHA:300573)
Gene: TUBB2B
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Polymicrogyria due to TUBB2B mutation (ORPHA:300573)
Gene: TUBB2B
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7 (OMIM:610031)
Gene: TUBB2B
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: TUBB2B
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome; Tubulinopathy-associated dysgyria (ORPHA:467166)
Gene: TUBB2B
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBB2B
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: Polymicrogyria due to TUBB2B mutation (ORPHA:300573)
Gene: TUBB2B
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7 (OMIM:610031)
Gene: TUBB2B
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7 (OMIM:610031)
Gene: TUBB2B
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBB2B
Phenotype: Tetraparesis (HP:0002273)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7 (OMIM:610031)
Gene: TUBB2B
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: Polymicrogyria due to TUBB2B mutation (ORPHA:300573)
Gene: TUBB2B
Phenotype: Abnormal thalamus morphology (HP:0010663)
Associated disease: Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome; Tubulinopathy-associated dysgyria (ORPHA:467166)
Gene: TUBB2B
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Polymicrogyria due to TUBB2B mutation (ORPHA:300573)
Gene: TUBB2B
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: TUBB2B
Phenotype: Schizencephaly (HP:0010636)
Associated disease: Polymicrogyria due to TUBB2B mutation (ORPHA:300573)
Gene: TUBB2B
Phenotype: Cavum septum pellucidum (HP:0002389)
Associated disease: Polymicrogyria due to TUBB2B mutation (ORPHA:300573)
Gene: TUBB2B
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7 (OMIM:610031)
Gene: TUBB2B
Phenotype: Abnormal brainstem morphology (HP:0002363)
Associated disease: Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome; Tubulinopathy-associated dysgyria (ORPHA:467166)
Gene: TUBB2B
Phenotype: Abnormal brainstem morphology (HP:0002363)
Associated disease: Polymicrogyria due to TUBB2B mutation (ORPHA:300573)
Gene: TUBB2B
Phenotype: Abnormal caudate nucleus morphology (HP:0002339)
Associated disease: Polymicrogyria due to TUBB2B mutation (ORPHA:300573)
Gene: TUBB2B
Phenotype: Congenital sensorineural hearing impairment (HP:0008527)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBB2B
Phenotype: Drooling (HP:0002307)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7 (OMIM:610031)
Gene: TUBB2B
Phenotype: Abnormal best corrected visual acuity test (HP:0030534)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBB2B
Phenotype: Agyria (HP:0031882)
Associated disease: Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome; Tubulinopathy-associated dysgyria (ORPHA:467166)
Gene: TUBB2B
Phenotype: Amblyopia (HP:0000646)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBB2B
Phenotype: Miosis (HP:0000616)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBB2B
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBB2B
Phenotype: Abnormality of ocular abduction (HP:0011347)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBB2B
Phenotype: Perisylvian polymicrogyria (HP:0012650)
Associated disease: Polymicrogyria due to TUBB2B mutation (ORPHA:300573)
Gene: TUBB2B
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome; Tubulinopathy-associated dysgyria (ORPHA:467166)
Gene: TUBB2B
Phenotype: Short stature (HP:0004322)
Associated disease: Uner Tan syndrome; Dysequilibrium syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; CAMRQ syndrome; UTS; Non-progressive cerebellar ataxia-intellectual disability syndrome (ORPHA:1766)
Gene: TUBB2B
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: Polymicrogyria due to TUBB2B mutation (ORPHA:300573)
Gene: TUBB2B
Phenotype: Unilateral polymicrogyria (HP:0006927)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7 (OMIM:610031)
Gene: TUBB2B
Phenotype: Frontoparietal cortical dysplasia (HP:0006930)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7 (OMIM:610031)
Gene: TUBB2B
Phenotype: Cerebral palsy (HP:0100021)
Associated disease: Uner Tan syndrome; Dysequilibrium syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; CAMRQ syndrome; UTS; Non-progressive cerebellar ataxia-intellectual disability syndrome (ORPHA:1766)
Gene: TUBB2B
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Uner Tan syndrome; Dysequilibrium syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; CAMRQ syndrome; UTS; Non-progressive cerebellar ataxia-intellectual disability syndrome (ORPHA:1766)
Gene: TUBB2B
Phenotype: Abnormal visual field test (HP:0030588)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBB2B
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Uner Tan syndrome; Dysequilibrium syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; CAMRQ syndrome; UTS; Non-progressive cerebellar ataxia-intellectual disability syndrome (ORPHA:1766)
Gene: TUBB2B
Phenotype: Finger aplasia (HP:0009380)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBB2B
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome; Tubulinopathy-associated dysgyria (ORPHA:467166)
Gene: TUBB2B
Phenotype: Levator palpebrae superioris atrophy (HP:0012241)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBB2B
Phenotype: Microcephaly (HP:0000252)
Associated disease: Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome; Tubulinopathy-associated dysgyria (ORPHA:467166)
Gene: TUBB2B
Phenotype: Microcephaly (HP:0000252)
Associated disease: Polymicrogyria due to TUBB2B mutation (ORPHA:300573)
Gene: TUBB2B
Phenotype: Microcephaly (HP:0000252)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7 (OMIM:610031)
Gene: TUBB2B
Phenotype: Nonprogressive restrictive external ophthalmoplegia (HP:0007831)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBB2B
Phenotype: Hemianopia (HP:0012377)
Associated disease: Polymicrogyria due to TUBB2B mutation (ORPHA:300573)
Gene: TUBB2B
Phenotype: Limited extraocular movements (HP:0007941)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7 (OMIM:610031)
Gene: TUBB2B
Phenotype: Strabismus (HP:0000486)
Associated disease: Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome; Tubulinopathy-associated dysgyria (ORPHA:467166)
Gene: TUBB2B
Phenotype: Strabismus (HP:0000486)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBB2B
Phenotype: Strabismus (HP:0000486)
Associated disease: Uner Tan syndrome; Dysequilibrium syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; CAMRQ syndrome; UTS; Non-progressive cerebellar ataxia-intellectual disability syndrome (ORPHA:1766)
Gene: TUBB2B
Phenotype: Strabismus (HP:0000486)
Associated disease: Polymicrogyria due to TUBB2B mutation (ORPHA:300573)
Gene: TUBB2B
Phenotype: Slow pupillary light response (HP:0030211)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBB2B
Phenotype: Infantile spasms (HP:0012469)
Associated disease: Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome; Tubulinopathy-associated dysgyria (ORPHA:467166)
Gene: TUBB2B
Phenotype: Infantile spasms (HP:0012469)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7 (OMIM:610031)
Gene: TUBB2B
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: Uner Tan syndrome; Dysequilibrium syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; CAMRQ syndrome; UTS; Non-progressive cerebellar ataxia-intellectual disability syndrome (ORPHA:1766)
Gene: TUBB2B
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7 (OMIM:610031)
Gene: TUBB2B
Phenotype: Torticollis (HP:0000473)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBB2B
Phenotype: Limited vertical extraocular movement (HP:0025721)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBB2B
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: TUBB2B
Phenotype: Cataract (HP:0000518)
Associated disease: Uner Tan syndrome; Dysequilibrium syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; CAMRQ syndrome; UTS; Non-progressive cerebellar ataxia-intellectual disability syndrome (ORPHA:1766)
Gene: TUBB2B
Phenotype: Cataract (HP:0000518)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBB2B
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBB2B
Phenotype: Ptosis (HP:0000508)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBB2B
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Uner Tan syndrome; Dysequilibrium syndrome; Cerebellar ataxia-intellectual disability-dysequilibrium syndrome; CAMRQ syndrome; UTS; Non-progressive cerebellar ataxia-intellectual disability syndrome (ORPHA:1766)
Gene: TUBB2B
Phenotype: Exotropia (HP:0000577)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBB2B
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: TUBB2B
Phenotype: Abnormal involuntary eye movements (HP:0012547)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBB2B
Phenotype: Esotropia (HP:0000565)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBB2B
Phenotype: Abnormality of refraction (HP:0000539)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: TUBB2B
Phenotype: Impaired ocular adduction (HP:0000542)
Associated disease: FEOM; Congenital fibrosis of extraocular muscles (ORPHA:45358)
Gene: SLC35B2
Phenotype: Adducted thumb (HP:0001181)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 26, WITH CHONDRODYSPLASIA (OMIM:620269)
Gene: SLC35B2
Phenotype: Limb dystonia (HP:0002451)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 26, WITH CHONDRODYSPLASIA (OMIM:620269)
Gene: SLC35B2
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 26, WITH CHONDRODYSPLASIA (OMIM:620269)
Gene: SLC35B2
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 26, WITH CHONDRODYSPLASIA (OMIM:620269)
Gene: SLC35B2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 26, WITH CHONDRODYSPLASIA (OMIM:620269)
Gene: SLC35B2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 26, WITH CHONDRODYSPLASIA (OMIM:620269)
Gene: SLC35B2
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 26, WITH CHONDRODYSPLASIA (OMIM:620269)
Gene: SLC35B2
Phenotype: Absent speech (HP:0001344)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 26, WITH CHONDRODYSPLASIA (OMIM:620269)
Gene: SLC35B2
Phenotype: Coxa valga (HP:0002673)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 26, WITH CHONDRODYSPLASIA (OMIM:620269)
Gene: SLC35B2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 26, WITH CHONDRODYSPLASIA (OMIM:620269)
Gene: SLC35B2
Phenotype: Scoliosis (HP:0002650)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 26, WITH CHONDRODYSPLASIA (OMIM:620269)
Gene: SLC35B2
Phenotype: Glossoptosis (HP:0000162)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 26, WITH CHONDRODYSPLASIA (OMIM:620269)
Gene: SLC35B2
Phenotype: Cleft palate (HP:0000175)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 26, WITH CHONDRODYSPLASIA (OMIM:620269)
Gene: SLC35B2
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 26, WITH CHONDRODYSPLASIA (OMIM:620269)
Gene: SLC35B2
Phenotype: Lumbar scoliosis (HP:0004626)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 26, WITH CHONDRODYSPLASIA (OMIM:620269)
Gene: SLC35B2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 26, WITH CHONDRODYSPLASIA (OMIM:620269)
Gene: SLC35B2
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 26, WITH CHONDRODYSPLASIA (OMIM:620269)
Gene: SLC35B2
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 26, WITH CHONDRODYSPLASIA (OMIM:620269)
Gene: SLC35B2
Phenotype: Small epiphyses (HP:0010585)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 26, WITH CHONDRODYSPLASIA (OMIM:620269)
Gene: SLC35B2
Phenotype: Infantile onset (HP:0003593)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 26, WITH CHONDRODYSPLASIA (OMIM:620269)
Gene: SLC35B2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 26, WITH CHONDRODYSPLASIA (OMIM:620269)
Gene: SLC35B2
Phenotype: Knee dislocation (HP:0004976)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 26, WITH CHONDRODYSPLASIA (OMIM:620269)
Gene: SLC35B2
Phenotype: Hypoplastic cervical vertebrae (HP:0008434)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 26, WITH CHONDRODYSPLASIA (OMIM:620269)
Gene: SLC35B2
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 26, WITH CHONDRODYSPLASIA (OMIM:620269)
Gene: SLC35B2
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 26, WITH CHONDRODYSPLASIA (OMIM:620269)
Gene: SLC35B2
Phenotype: Short stature (HP:0004322)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 26, WITH CHONDRODYSPLASIA (OMIM:620269)
Gene: SLC35B2
Phenotype: Antenatal onset (HP:0030674)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 26, WITH CHONDRODYSPLASIA (OMIM:620269)
Gene: SLC35B2
Phenotype: Elbow dislocation (HP:0003042)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 26, WITH CHONDRODYSPLASIA (OMIM:620269)
Gene: SLC35B2
Phenotype: Short long bone (HP:0003026)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 26, WITH CHONDRODYSPLASIA (OMIM:620269)
Gene: SLC35B2
Phenotype: Retrognathia (HP:0000278)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 26, WITH CHONDRODYSPLASIA (OMIM:620269)
Gene: SLC35B2
Phenotype: Pierre-Robin sequence (HP:0000201)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 26, WITH CHONDRODYSPLASIA (OMIM:620269)
Gene: SLC35B2
Phenotype: Flat face (HP:0012368)
Associated disease: LEUKODYSTROPHY, HYPOMYELINATING, 26, WITH CHONDRODYSPLASIA (OMIM:620269)
Gene: CTU2
Phenotype: Hypoplastic right heart (HP:0010954)
Associated disease: MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME (OMIM:618142)
Gene: CTU2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME (OMIM:618142)
Gene: CTU2
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME (OMIM:618142)
Gene: CTU2
Phenotype: Seizure (HP:0001250)
Associated disease: MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME (OMIM:618142)
Gene: CTU2
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME (OMIM:618142)
Gene: CTU2
Phenotype: Ambiguous genitalia (HP:0000062)
Associated disease: MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME (OMIM:618142)
Gene: CTU2
Phenotype: Micropenis (HP:0000054)
Associated disease: MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME (OMIM:618142)
Gene: CTU2
Phenotype: Lissencephaly (HP:0001339)
Associated disease: MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME (OMIM:618142)
Gene: CTU2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME (OMIM:618142)
Gene: CTU2
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME (OMIM:618142)
Gene: CTU2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME (OMIM:618142)
Gene: CTU2
Phenotype: Crossed fused renal ectopia (HP:0004736)
Associated disease: MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME (OMIM:618142)
Gene: CTU2
Phenotype: Overlapping fingers (HP:0010557)
Associated disease: MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME (OMIM:618142)
Gene: CTU2
Phenotype: Congenital onset (HP:0003577)
Associated disease: MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME (OMIM:618142)
Gene: CTU2
Phenotype: Enlarged cisterna magna (HP:0002280)
Associated disease: MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME (OMIM:618142)
Gene: CTU2
Phenotype: Dimple chin (HP:0010751)
Associated disease: MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME (OMIM:618142)
Gene: CTU2
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME (OMIM:618142)
Gene: CTU2
Phenotype: Preaxial polydactyly (HP:0100258)
Associated disease: MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME (OMIM:618142)
Gene: CTU2
Phenotype: Retrognathia (HP:0000278)
Associated disease: MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME (OMIM:618142)
Gene: CTU2
Phenotype: Microcephaly (HP:0000252)
Associated disease: MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME (OMIM:618142)
Gene: CTU2
Phenotype: Brachycephaly (HP:0000248)
Associated disease: MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME (OMIM:618142)
Gene: CTU2
Phenotype: High palate (HP:0000218)
Associated disease: MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME (OMIM:618142)
Gene: CTU2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME (OMIM:618142)
Gene: CTU2
Phenotype: Low-set ears (HP:0000369)
Associated disease: MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME (OMIM:618142)
Gene: CTU2
Phenotype: Narrow forehead (HP:0000341)
Associated disease: MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME (OMIM:618142)
Gene: CTU2
Phenotype: Micrognathia (HP:0000347)
Associated disease: MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME (OMIM:618142)
Gene: CTU2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME (OMIM:618142)
Gene: CTU2
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME (OMIM:618142)
Gene: CTU2
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME (OMIM:618142)
Gene: CTU2
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME (OMIM:618142)
Gene: CTU2
Phenotype: Macrotia (HP:0000400)
Associated disease: MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME (OMIM:618142)
Gene: CTU2
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME (OMIM:618142)
Gene: CTU2
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME (OMIM:618142)
Gene: CTU2
Phenotype: Overlapping toe (HP:0001845)
Associated disease: MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME (OMIM:618142)
Gene: CTU2
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME (OMIM:618142)
Gene: SLC6A18
Phenotype: Hyperglycinemia (HP:0002154)
Associated disease: Iminoglycinuria (ORPHA:42062)
Gene: SLC6A18
Phenotype: Hyperprolinemia (HP:0008358)
Associated disease: Iminoglycinuria (ORPHA:42062)