TaoMedAI/RareMedData huggingface dataset:
Gene: UBE3A
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: UBE3A
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: Angelman syndrome due to paternal uniparental disomy of chromosome 15; UPD(15)pat (ORPHA:98795)
Gene: UBE3A
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: Angelman syndrome due to a point mutation (ORPHA:411511)
Gene: UBE3A
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: UBE3A
Phenotype: Intellectual disability, progressive (HP:0006887)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: UBE3A
Phenotype: Nystagmus (HP:0000639)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: UBE3A
Phenotype: Blue irides (HP:0000635)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: UBE3A
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: UBE3A
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: Angelman syndrome due to paternal uniparental disomy of chromosome 15; UPD(15)pat (ORPHA:98795)
Gene: UBE3A
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: UBE3A
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: Angelman syndrome due to a point mutation (ORPHA:411511)
Gene: UBE3A
Phenotype: Abnormal facial shape (HP:0001999)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: UBE3A
Phenotype: Short stature (HP:0004322)
Associated disease: 15q11q13 duplication syndrome; Dup(15)(q11q13); Trisomy 15q11q13; 15q11q13 microduplication syndrome (ORPHA:238446)
Gene: UBE3A
Phenotype: Sleep-wake cycle disturbance (HP:0006979)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: UBE3A
Phenotype: Sleep-wake cycle disturbance (HP:0006979)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: UBE3A
Phenotype: Functional motor deficit (HP:0004302)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: UBE3A
Phenotype: Abnormal cardiovascular system morphology (HP:0030680)
Associated disease: 15q11q13 duplication syndrome; Dup(15)(q11q13); Trisomy 15q11q13; 15q11q13 microduplication syndrome (ORPHA:238446)
Gene: UBE3A
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: UBE3A
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: UBE3A
Phenotype: Hyperactivity (HP:0000752)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: UBE3A
Phenotype: Hyperactivity (HP:0000752)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: UBE3A
Phenotype: Hyperactivity (HP:0000752)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: UBE3A
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: UBE3A
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Angelman syndrome due to a point mutation (ORPHA:411511)
Gene: UBE3A
Phenotype: Recurrent hand flapping (HP:0100023)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: UBE3A
Phenotype: Recurrent hand flapping (HP:0100023)
Associated disease: Angelman syndrome due to a point mutation (ORPHA:411511)
Gene: UBE3A
Phenotype: Short attention span (HP:0000736)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: UBE3A
Phenotype: Short attention span (HP:0000736)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: UBE3A
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: 15q11q13 duplication syndrome; Dup(15)(q11q13); Trisomy 15q11q13; 15q11q13 microduplication syndrome (ORPHA:238446)
Gene: UBE3A
Phenotype: Paroxysmal bursts of laughter (HP:0000749)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: UBE3A
Phenotype: Inappropriate laughter (HP:0000748)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: UBE3A
Phenotype: Inappropriate laughter (HP:0000748)
Associated disease: Angelman syndrome due to a point mutation (ORPHA:411511)
Gene: UBE3A
Phenotype: Inappropriate laughter (HP:0000748)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: UBE3A
Phenotype: Autism (HP:0000717)
Associated disease: 15q11q13 duplication syndrome; Dup(15)(q11q13); Trisomy 15q11q13; 15q11q13 microduplication syndrome (ORPHA:238446)
Gene: UBE3A
Phenotype: Hyperorality (HP:0000710)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: UBE3A
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: UBE3A
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: 15q11q13 duplication syndrome; Dup(15)(q11q13); Trisomy 15q11q13; 15q11q13 microduplication syndrome (ORPHA:238446)
Gene: UBE3A
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: UBE3A
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: UBE3A
Phenotype: Cessation of head growth (HP:0004485)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: UBE3A
Phenotype: Cessation of head growth (HP:0004485)
Associated disease: Angelman syndrome due to paternal uniparental disomy of chromosome 15; UPD(15)pat (ORPHA:98795)
Gene: UBE3A
Phenotype: Cessation of head growth (HP:0004485)
Associated disease: Angelman syndrome due to a point mutation (ORPHA:411511)
Gene: UBE3A
Phenotype: Cessation of head growth (HP:0004485)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: UBE3A
Phenotype: Happy demeanor (HP:0040082)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: UBE3A
Phenotype: Happy demeanor (HP:0040082)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: UBE3A
Phenotype: Happy demeanor (HP:0040082)
Associated disease: Angelman syndrome due to a point mutation (ORPHA:411511)
Gene: UBE3A
Phenotype: Happy demeanor (HP:0040082)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: UBE3A
Phenotype: Shortened sleep phase (HP:0033063)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: UBE3A
Phenotype: Mild microcephaly (HP:0040196)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: UBE3A
Phenotype: Mild microcephaly (HP:0040196)
Associated disease: Angelman syndrome due to a point mutation (ORPHA:411511)
Gene: UBE3A
Phenotype: Epicanthus (HP:0000286)
Associated disease: 15q11q13 duplication syndrome; Dup(15)(q11q13); Trisomy 15q11q13; 15q11q13 microduplication syndrome (ORPHA:238446)
Gene: UBE3A
Phenotype: Mask-like facies (HP:0000298)
Associated disease: 15q11q13 duplication syndrome; Dup(15)(q11q13); Trisomy 15q11q13; 15q11q13 microduplication syndrome (ORPHA:238446)
Gene: UBE3A
Phenotype: Macrocephaly (HP:0000256)
Associated disease: 15q11q13 duplication syndrome; Dup(15)(q11q13); Trisomy 15q11q13; 15q11q13 microduplication syndrome (ORPHA:238446)
Gene: UBE3A
Phenotype: Iris hypopigmentation (HP:0007730)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: UBE3A
Phenotype: Iris hypopigmentation (HP:0007730)
Associated disease: Angelman syndrome due to paternal uniparental disomy of chromosome 15; UPD(15)pat (ORPHA:98795)
Gene: UBE3A
Phenotype: Iris hypopigmentation (HP:0007730)
Associated disease: Angelman syndrome due to a point mutation (ORPHA:411511)
Gene: UBE3A
Phenotype: Iris hypopigmentation (HP:0007730)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: UBE3A
Phenotype: Brachycephaly (HP:0000248)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: UBE3A
Phenotype: Obesity (HP:0001513)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: UBE3A
Phenotype: Obesity (HP:0001513)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: UBE3A
Phenotype: Obesity (HP:0001513)
Associated disease: Angelman syndrome due to a point mutation (ORPHA:411511)
Gene: UBE3A
Phenotype: Obesity (HP:0001513)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: UBE3A
Phenotype: Hypoplasia of the maxilla (HP:0000327)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: UBE3A
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: UBE3A
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: UBE3A
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Angelman syndrome due to paternal uniparental disomy of chromosome 15; UPD(15)pat (ORPHA:98795)
Gene: UBE3A
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Angelman syndrome due to a point mutation (ORPHA:411511)
Gene: UBE3A
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Gene: UBE3A
Phenotype: EEG with focal epileptiform discharges (HP:0011185)
Associated disease: Angelman syndrome due to paternal uniparental disomy of chromosome 15; UPD(15)pat (ORPHA:98795)
Gene: UBE3A
Phenotype: Strabismus (HP:0000486)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: UBE3A
Phenotype: Strabismus (HP:0000486)
Associated disease: Angelman syndrome due to a point mutation (ORPHA:411511)
Gene: UBE3A
Phenotype: Strabismus (HP:0000486)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: UBE3A
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: 15q11q13 duplication syndrome; Dup(15)(q11q13); Trisomy 15q11q13; 15q11q13 microduplication syndrome (ORPHA:238446)
Gene: UBE3A
Phenotype: Deeply set eye (HP:0000490)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: UBE3A
Phenotype: Delayed myelination (HP:0012448)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: UBE3A
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: UBE3A
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: Angelman syndrome due to paternal uniparental disomy of chromosome 15; UPD(15)pat (ORPHA:98795)
Gene: UBE3A
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: UBE3A
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: Angelman syndrome due to a point mutation (ORPHA:411511)
Gene: UBE3A
Phenotype: Flat occiput (HP:0005469)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: UBE3A
Phenotype: Flat occiput (HP:0005469)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: UBE3A
Phenotype: Flat occiput (HP:0005469)
Associated disease: Angelman syndrome due to a point mutation (ORPHA:411511)
Gene: UBE3A
Phenotype: Exotropia (HP:0000577)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: UBE3A
Phenotype: EEG with abnormally slow frequencies (HP:0011203)
Associated disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Gene: UBE3A
Phenotype: Myopia (HP:0000545)
Associated disease: ANGELMAN SYNDROME (OMIM:105830)
Gene: SUMO1
Phenotype: Sporadic (HP:0003745)
Associated disease: OROFACIAL CLEFT 10 (OMIM:613705)
Gene: SUMO1
Phenotype: Peg-shaped maxillary lateral incisors (HP:0006342)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: SUMO1
Phenotype: Abnormal primary molar morphology (HP:0006344)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: SUMO1
Phenotype: Short dental root (HP:0006336)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: SUMO1
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: SUMO1
Phenotype: Agenesis of central incisor (HP:0006289)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: SUMO1
Phenotype: Congenital onset (HP:0003577)
Associated disease: OROFACIAL CLEFT 10 (OMIM:613705)
Gene: SUMO1
Phenotype: Delayed eruption of permanent teeth (HP:0000696)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: SUMO1
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: SUMO1
Phenotype: Taurodontia (HP:0000679)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: SUMO1
Phenotype: Oligodontia (HP:0000677)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: SUMO1
Phenotype: Microdontia (HP:0000691)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: SUMO1
Phenotype: Agenesis of maxillary lateral incisor (HP:0000690)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: SUMO1
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: SUMO1
Phenotype: Hypoplasia of teeth (HP:0000685)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: SUMO1
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: SUMO1
Phenotype: Unilateral cleft lip (HP:0100333)
Associated disease: OROFACIAL CLEFT 10 (OMIM:613705)
Gene: SUMO1
Phenotype: Unilateral cleft palate (HP:0100334)
Associated disease: OROFACIAL CLEFT 10 (OMIM:613705)
Gene: SUMO1
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: SUMO1
Phenotype: Abnormality of canine (HP:0011078)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: SUMO1
Phenotype: Agenesis of mandibular premolar (HP:0011053)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: SUMO1
Phenotype: Agenesis of premolar (HP:0011051)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: SUMO1
Phenotype: Agenesis of first permanent molar tooth (HP:0011056)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: SUMO1
Phenotype: Impaired mastication (HP:0005216)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: SUMO1
Phenotype: Abnormal dental morphology (HP:0006482)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: SUMO1
Phenotype: Eclabion (HP:0012472)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: SUMO1
Phenotype: Short face (HP:0011219)
Associated disease: Selective tooth agenesis; Oligodontia (ORPHA:99798)
Gene: UBTF
Phenotype: Impaired pain sensation (HP:0007328)
Associated disease: Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder (ORPHA:500180)
Gene: UBTF
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY (OMIM:617672)
Gene: UBTF
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder (ORPHA:500180)
Gene: UBTF
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder (ORPHA:500180)
Gene: UBTF
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY (OMIM:617672)
Gene: UBTF
Phenotype: Mental deterioration (HP:0001268)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY (OMIM:617672)
Gene: UBTF
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY (OMIM:617672)
Gene: UBTF
Phenotype: Seizure (HP:0001250)
Associated disease: Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder (ORPHA:500180)
Gene: UBTF
Phenotype: Ataxia (HP:0001251)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY (OMIM:617672)
Gene: UBTF
Phenotype: Dysarthria (HP:0001260)
Associated disease: Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder (ORPHA:500180)
Gene: UBTF
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY (OMIM:617672)
Gene: UBTF
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder (ORPHA:500180)
Gene: UBTF
Phenotype: Spasticity (HP:0001257)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY (OMIM:617672)
Gene: UBTF
Phenotype: Spasticity (HP:0001257)
Associated disease: Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder (ORPHA:500180)
Gene: UBTF
Phenotype: Inability to walk (HP:0002540)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY (OMIM:617672)
Gene: UBTF
Phenotype: Inability to walk (HP:0002540)
Associated disease: Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder (ORPHA:500180)
Gene: UBTF
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder (ORPHA:500180)
Gene: UBTF
Phenotype: Dystonia (HP:0001332)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY (OMIM:617672)
Gene: UBTF
Phenotype: Dystonia (HP:0001332)
Associated disease: Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder (ORPHA:500180)
Gene: UBTF
Phenotype: Absent speech (HP:0001344)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY (OMIM:617672)
Gene: UBTF
Phenotype: Absent speech (HP:0001344)
Associated disease: Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder (ORPHA:500180)
Gene: UBTF
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY (OMIM:617672)
Gene: UBTF
Phenotype: Parkinsonism (HP:0001300)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY (OMIM:617672)
Gene: UBTF
Phenotype: Floppy infant (HP:0008947)
Associated disease: Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder (ORPHA:500180)
Gene: UBTF
Phenotype: Dysphagia (HP:0002015)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY (OMIM:617672)
Gene: UBTF
Phenotype: Dysphagia (HP:0002015)
Associated disease: Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder (ORPHA:500180)
Gene: UBTF
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder (ORPHA:500180)
Gene: UBTF
Phenotype: Rigidity (HP:0002063)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY (OMIM:617672)
Gene: UBTF
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY (OMIM:617672)
Gene: UBTF
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder (ORPHA:500180)
Gene: UBTF
Phenotype: Chorea (HP:0002072)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY (OMIM:617672)
Gene: UBTF
Phenotype: Chorea (HP:0002072)
Associated disease: Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder (ORPHA:500180)
Gene: UBTF
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY (OMIM:617672)
Gene: UBTF
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder (ORPHA:500180)
Gene: UBTF
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY (OMIM:617672)
Gene: UBTF
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder (ORPHA:500180)
Gene: UBTF
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY (OMIM:617672)
Gene: UBTF
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder (ORPHA:500180)
Gene: UBTF
Phenotype: Axonal loss (HP:0003447)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY (OMIM:617672)
Gene: UBTF
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY (OMIM:617672)
Gene: UBTF
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder (ORPHA:500180)
Gene: UBTF
Phenotype: Neurodegeneration (HP:0002180)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY (OMIM:617672)
Gene: UBTF
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY (OMIM:617672)
Gene: UBTF
Phenotype: Impulsivity (HP:0100710)
Associated disease: Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder (ORPHA:500180)
Gene: UBTF
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY (OMIM:617672)
Gene: UBTF
Phenotype: Aphasia (HP:0002381)
Associated disease: Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder (ORPHA:500180)
Gene: UBTF
Phenotype: Developmental regression (HP:0002376)
Associated disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY (OMIM:617672)
Gene: UBTF
Phenotype: Developmental regression (HP:0002376)
Associated disease: Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder (ORPHA:500180)