TaoMedAI/RareMedData huggingface dataset:
Gene: TBL2
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TBL2
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TBL2
Phenotype: Failure to thrive in infancy (HP:0001531)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TBL2
Phenotype: Genu valgum (HP:0002857)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TBL2
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TBL2
Phenotype: Obesity (HP:0001513)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TBL2
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TBL2
Phenotype: Hoarse voice (HP:0001609)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TBL2
Phenotype: Abnormality of the voice (HP:0001608)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TBL2
Phenotype: Dysphonia (HP:0001618)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TBL2
Phenotype: Abnormal dental morphology (HP:0006482)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TBL2
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TBL2
Phenotype: Abnormal cardiac septum morphology (HP:0001671)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TBL2
Phenotype: Long philtrum (HP:0000343)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TBL2
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TBL2
Phenotype: Broad forehead (HP:0000337)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TBL2
Phenotype: Patellar dislocation (HP:0002999)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TBL2
Phenotype: High forehead (HP:0000348)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TBL2
Phenotype: Micrognathia (HP:0000347)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TBL2
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TBL2
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TBL2
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TBL2
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TBL2
Phenotype: Radioulnar synostosis (HP:0002974)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TBL2
Phenotype: Myocardial infarction (HP:0001658)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TBL2
Phenotype: Mitral regurgitation (HP:0001653)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TBL2
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TBL2
Phenotype: Abnormality of the cardiovascular system (HP:0001626)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TBL2
Phenotype: Cardiomegaly (HP:0001640)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TBL2
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TBL2
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TBL2
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TBL2
Phenotype: Pointed chin (HP:0000307)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TBL2
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TBL2
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TBL2
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TBL2
Phenotype: Abnormal carotid artery morphology (HP:0005344)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TBL2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TBL2
Phenotype: Macrotia (HP:0000400)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TBL2
Phenotype: Strabismus (HP:0000486)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TBL2
Phenotype: Megalocornea (HP:0000485)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TBL2
Phenotype: Abnormality of the neck (HP:0000464)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TBL2
Phenotype: Abnormal social behavior (HP:0012433)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TBL2
Phenotype: Pes planus (HP:0001763)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TBL2
Phenotype: Protruding ear (HP:0000411)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TBL2
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TBL2
Phenotype: Cataract (HP:0000518)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TBL2
Phenotype: Hallux valgus (HP:0001822)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TBL2
Phenotype: Visual impairment (HP:0000505)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TBL2
Phenotype: Glaucoma (HP:0000501)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TBL2
Phenotype: Hypoplastic toenails (HP:0001800)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TBL2
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: TBL2
Phenotype: Myopia (HP:0000545)
Associated disease: Monosomy 7q11.23; Williams-Beuren syndrome; Deletion 7q11.23; Williams syndrome (ORPHA:904)
Gene: ELP4
Phenotype: Lens subluxation (HP:0001132)
Associated disease: ANIRIDIA 2 (OMIM:617141)
Gene: ELP4
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ANIRIDIA 2 (OMIM:617141)
Gene: ELP4
Phenotype: Congenital onset (HP:0003577)
Associated disease: ANIRIDIA 2 (OMIM:617141)
Gene: ELP4
Phenotype: Amblyopia (HP:0000646)
Associated disease: ANIRIDIA 2 (OMIM:617141)
Gene: ELP4
Phenotype: Optic atrophy (HP:0000648)
Associated disease: ANIRIDIA 2 (OMIM:617141)
Gene: ELP4
Phenotype: Iris coloboma (HP:0000612)
Associated disease: ANIRIDIA 2 (OMIM:617141)
Gene: ELP4
Phenotype: Cataract (HP:0000518)
Associated disease: ANIRIDIA 2 (OMIM:617141)
Gene: ELP4
Phenotype: Aniridia (HP:0000526)
Associated disease: ANIRIDIA 2 (OMIM:617141)
Gene: RNU4-2
Phenotype: Tapered finger (HP:0001182)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Adducted thumb (HP:0001181)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Arachnodactyly (HP:0001166)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Bipolar affective disorder (HP:0007302)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Hippocampal atrophy (HP:0410170)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Simple ear (HP:0020206)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Encephalopathy (HP:0001298)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Motor delay (HP:0001270)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Gait disturbance (HP:0001288)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Seizure (HP:0001250)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Hypotonia (HP:0001252)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Ataxia (HP:0001251)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Intellectual disability (HP:0001249)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Spastic diplegia (HP:0001264)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Choreoathetosis (HP:0001266)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Global developmental delay (HP:0001263)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Spasticity (HP:0001257)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Hippocampal sclerosis (HP:0033715)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Periventricular nodular heterotopia (HP:0032388)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Impaired toileting ability (HP:0031061)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Inability to walk (HP:0002540)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Cortical dysplasia (HP:0002539)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Falls (HP:0002527)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Inguinal hernia (HP:0000023)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Deep palmar crease (HP:0006191)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Dystonia (HP:0001332)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Absent speech (HP:0001344)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Lissencephaly (HP:0001339)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Communicating hydrocephalus (HP:0001334)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Scoliosis (HP:0002650)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Narrow palate (HP:0000189)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Self-biting (HP:0012169)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Open mouth (HP:0000194)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Bifid uvula (HP:0000193)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Narrow mouth (HP:0000160)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Macroglossia (HP:0000158)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Wide mouth (HP:0000154)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Eye poking (HP:0001483)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Ectropion of lower eyelids (HP:0007651)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Eversion of lateral third of lower eyelids (HP:0007655)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Constipation (HP:0002019)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Deep philtrum (HP:0002002)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Dysphagia (HP:0002015)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Arachnoid granulation (HP:0034454)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Opacified paranasal sinuses (HP:0034494)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Broad-based gait (HP:0002136)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Clonus (HP:0002169)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Gliosis (HP:0002171)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Pica (HP:0011856)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Tented philtrum (HP:0011825)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Arachnoid cyst (HP:0100702)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Hypoplasia of the antihelix (HP:0009739)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Global brain atrophy (HP:0002283)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Enlarged cisterna magna (HP:0002280)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Frontal balding (HP:0002292)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Triangular-shaped open mouth (HP:0200096)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Motor axonal neuropathy (HP:0007002)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Feeding difficulties (HP:0011968)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Cavum septum pellucidum (HP:0002389)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Cavernous hemangioma (HP:0001048)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Sleep abnormality (HP:0002360)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Developmental regression (HP:0002376)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Unsteady gait (HP:0002317)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Tented upper lip vermilion (HP:0010804)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Protruding tongue (HP:0010808)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: U-Shaped upper lip vermilion (HP:0010806)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Abnormally large globe (HP:0001090)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Periventricular heterotopia (HP:0007165)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Tube feeding (HP:0033454)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Shoulder dimple (HP:0010782)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Low hanging columella (HP:0009765)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Chiari malformation (HP:0002308)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Drooling (HP:0002307)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Tortuous cerebral arteries (HP:0004938)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Sensory seeking (HP:4000079)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Nystagmus (HP:0000639)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Blindness (HP:0000618)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Optic nerve hypoplasia (HP:0000609)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Hypotelorism (HP:0000601)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Pineal cyst (HP:0012683)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Moderate global developmental delay (HP:0011343)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Mild global developmental delay (HP:0011342)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Tooth malposition (HP:0000692)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Short stature (HP:0004322)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Periventricular leukomalacia (HP:0006970)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Cerebral palsy (HP:0100021)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Pectus excavatum (HP:0000767)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Pectus carinatum (HP:0000768)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Irritability (HP:0000737)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Anxiety (HP:0000739)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Motor stereotypy (HP:0000733)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Short attention span (HP:0000736)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Aggressive behavior (HP:0000718)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Hyperorality (HP:0000710)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Autistic behavior (HP:0000729)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Fetal onset (HP:0011461)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Primary microcephaly (HP:0011451)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Scaphocephaly (HP:0030799)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Short nose (HP:0003196)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Inverted nipples (HP:0003186)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Reduced cerebral white matter volume (HP:0034295)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Short sternum (HP:0000879)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Diabetes insipidus (HP:0000873)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Hypothyroidism (HP:0000821)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Finger clinodactyly (HP:0040019)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Anteverted ears (HP:0040080)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Hyperintensity of cerebral white matter on MRI (HP:0030890)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Claw toe deformity (HP:0034397)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Hooded upper eyelid (HP:0030822)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Social anxiety (HP:6000029)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Reduced circulating growth hormone concentration (HP:0034323)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Osteoporosis (HP:0000939)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Epicanthus (HP:0000286)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Retrognathia (HP:0000278)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Facial hypotonia (HP:0000297)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Full cheeks (HP:0000293)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Long face (HP:0000276)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Microcephaly (HP:0000252)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Brachycephaly (HP:0000248)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: High palate (HP:0000218)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Asymmetry of the thorax (HP:0001555)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Central apnea (HP:0002871)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Umbilical hernia (HP:0001537)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Failure to thrive (HP:0001508)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Recurrent bronchitis (HP:0002837)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Colpocephaly (HP:0030048)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Small earlobe (HP:0000385)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Flat face (HP:0012368)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Cupped ear (HP:0000378)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Overfolded helix (HP:0000396)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Almond-shaped palpebral fissure (HP:0007874)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Recurrent pneumonia (HP:0006532)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Hearing impairment (HP:0000365)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Restricted or repetitive behaviors or interests (HP:0031432)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Low-set ears (HP:0000369)
Associated disease:  (OMIM:620851)
Gene: RNU4-2
Phenotype: Narrow forehead (HP:0000341)
Associated disease:  (OMIM:620851)