TaoMedAI/RareMedData huggingface dataset:
Gene: WASHC5
Phenotype: Short stature (HP:0004322)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: WASHC5
Phenotype: Upper limb spasticity (HP:0006986)
Associated disease: SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT (OMIM:603563)
Gene: WASHC5
Phenotype: Upper limb spasticity (HP:0006986)
Associated disease: SPG8; Autosomal dominant spastic paraplegia type 8 (ORPHA:100989)
Gene: WASHC5
Phenotype: Hypoplastic left heart (HP:0004383)
Associated disease: RITSCHER-SCHINZEL SYNDROME 1 (OMIM:220210)
Gene: WASHC5
Phenotype: Hypoplastic left heart (HP:0004383)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: WASHC5
Phenotype: Ectopic anus (HP:0004397)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: WASHC5
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT (OMIM:603563)
Gene: WASHC5
Phenotype: Short nose (HP:0003196)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: WASHC5
Phenotype: Missing ribs (HP:0000921)
Associated disease: RITSCHER-SCHINZEL SYNDROME 1 (OMIM:220210)
Gene: WASHC5
Phenotype: Missing ribs (HP:0000921)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: WASHC5
Phenotype: Adrenal hypoplasia (HP:0000835)
Associated disease: RITSCHER-SCHINZEL SYNDROME 1 (OMIM:220210)
Gene: WASHC5
Phenotype: Adrenal hypoplasia (HP:0000835)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: WASHC5
Phenotype: Decreased response to growth hormone stimulation test (HP:0000824)
Associated disease: RITSCHER-SCHINZEL SYNDROME 1 (OMIM:220210)
Gene: WASHC5
Phenotype: Abnormal lower-limb motor evoked potentials (HP:0012898)
Associated disease: SPG8; Autosomal dominant spastic paraplegia type 8 (ORPHA:100989)
Gene: WASHC5
Phenotype: Abnormal hip bone morphology (HP:0003272)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: WASHC5
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: WASHC5
Phenotype: Prominent occiput (HP:0000269)
Associated disease: RITSCHER-SCHINZEL SYNDROME 1 (OMIM:220210)
Gene: WASHC5
Phenotype: Prominent occiput (HP:0000269)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: WASHC5
Phenotype: Kyphosis (HP:0002808)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: WASHC5
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: WASHC5
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: RITSCHER-SCHINZEL SYNDROME 1 (OMIM:220210)
Gene: WASHC5
Phenotype: Abnormal cranial suture/fontanelle morphology (HP:0000235)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: WASHC5
Phenotype: Brachycephaly (HP:0000248)
Associated disease: RITSCHER-SCHINZEL SYNDROME 1 (OMIM:220210)
Gene: WASHC5
Phenotype: Death in infancy (HP:0001522)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: WASHC5
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: WASHC5
Phenotype: Urinary bladder sphincter dysfunction (HP:0002839)
Associated disease: SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT (OMIM:603563)
Gene: WASHC5
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: RITSCHER-SCHINZEL SYNDROME 1 (OMIM:220210)
Gene: WASHC5
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: WASHC5
Phenotype: Hemivertebrae (HP:0002937)
Associated disease: RITSCHER-SCHINZEL SYNDROME 1 (OMIM:220210)
Gene: WASHC5
Phenotype: Hemivertebrae (HP:0002937)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: WASHC5
Phenotype: Abnormal cerebrospinal fluid morphology (HP:0002921)
Associated disease: SPG8; Autosomal dominant spastic paraplegia type 8 (ORPHA:100989)
Gene: WASHC5
Phenotype: Low-set ears (HP:0000369)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: WASHC5
Phenotype: Low-set ears (HP:0000369)
Associated disease: RITSCHER-SCHINZEL SYNDROME 1 (OMIM:220210)
Gene: WASHC5
Phenotype: Broad forehead (HP:0000337)
Associated disease: RITSCHER-SCHINZEL SYNDROME 1 (OMIM:220210)
Gene: WASHC5
Phenotype: High forehead (HP:0000348)
Associated disease: RITSCHER-SCHINZEL SYNDROME 1 (OMIM:220210)
Gene: WASHC5
Phenotype: Micrognathia (HP:0000347)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: WASHC5
Phenotype: Micrognathia (HP:0000347)
Associated disease: RITSCHER-SCHINZEL SYNDROME 1 (OMIM:220210)
Gene: WASHC5
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: RITSCHER-SCHINZEL SYNDROME 1 (OMIM:220210)
Gene: WASHC5
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: WASHC5
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: WASHC5
Phenotype: Hypertelorism (HP:0000316)
Associated disease: RITSCHER-SCHINZEL SYNDROME 1 (OMIM:220210)
Gene: WASHC5
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: RITSCHER-SCHINZEL SYNDROME 1 (OMIM:220210)
Gene: WASHC5
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: WASHC5
Phenotype: Facial hemangioma (HP:0000329)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: WASHC5
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: WASHC5
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: RITSCHER-SCHINZEL SYNDROME 1 (OMIM:220210)
Gene: WASHC5
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: RITSCHER-SCHINZEL SYNDROME 1 (OMIM:220210)
Gene: WASHC5
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: WASHC5
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: WASHC5
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: RITSCHER-SCHINZEL SYNDROME 1 (OMIM:220210)
Gene: WASHC5
Phenotype: Abnormal mitral valve morphology (HP:0001633)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: WASHC5
Phenotype: Atrioventricular canal defect (HP:0006695)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: WASHC5
Phenotype: Abnormal tricuspid valve morphology (HP:0001702)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: WASHC5
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: RITSCHER-SCHINZEL SYNDROME 1 (OMIM:220210)
Gene: WASHC5
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: WASHC5
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: RITSCHER-SCHINZEL SYNDROME 1 (OMIM:220210)
Gene: WASHC5
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: WASHC5
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: RITSCHER-SCHINZEL SYNDROME 1 (OMIM:220210)
Gene: WASHC5
Phenotype: Short neck (HP:0000470)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: WASHC5
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: WASHC5
Phenotype: Pes cavus (HP:0001761)
Associated disease: SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT (OMIM:603563)
Gene: WASHC5
Phenotype: Pes cavus (HP:0001761)
Associated disease: SPG8; Autosomal dominant spastic paraplegia type 8 (ORPHA:100989)
Gene: WASHC5
Phenotype: Aplasia/Hypoplasia of the nipples (HP:0006709)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: WASHC5
Phenotype: Glaucoma (HP:0000501)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: WASHC5
Phenotype: Hypoplastic fingernail (HP:0001804)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: WASHC5
Phenotype: Coloboma (HP:0000589)
Associated disease: RITSCHER-SCHINZEL SYNDROME 1 (OMIM:220210)
Gene: WASHC5
Phenotype: Chorioretinal coloboma (HP:0000567)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: UBAP2L
Phenotype: Crumpled ear (HP:0009901)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Brachydactyly (HP:0001156)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Microtia (HP:0008551)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Stuttering (HP:0025268)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Motor delay (HP:0001270)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Intellectual disability (HP:0001249)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Oromandibular dystonia (HP:0012048)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Joint stiffness (HP:0001387)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Tremor (HP:0001337)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Asthma (HP:0002099)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Thenar muscle atrophy (HP:0003393)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Sleep apnea (HP:0010535)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Echolalia (HP:0010529)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Frontal upsweep of hair (HP:0002236)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Finger joint contracture (HP:0034681)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Symphalangism of the thumb (HP:0009656)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Developmental regression (HP:0002376)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Drowsiness (HP:0002329)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Hyperacusis (HP:0010780)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Medial flaring of the eyebrow (HP:0010747)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Juvenile onset (HP:0003621)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Nystagmus (HP:0000639)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Broad hallux (HP:0010055)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Metopic synostosis (HP:0011330)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Synophrys (HP:0000664)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Short stature (HP:0004322)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Anxiety (HP:0000739)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Autistic behavior (HP:0000729)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Chronic bronchitis (HP:0004469)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Short femur (HP:0003097)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Cafe-au-lait spot (HP:0000957)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Cutis marmorata (HP:0000965)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Epicanthus (HP:0000286)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Long face (HP:0000276)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Clinodactyly (HP:0030084)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: High palate (HP:0000218)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Everted lower lip vermilion (HP:0000232)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Failure to thrive (HP:0001508)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Flat face (HP:0012368)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Cupped ear (HP:0000378)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Hearing impairment (HP:0000365)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Long philtrum (HP:0000343)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Broad forehead (HP:0000337)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Hypertelorism (HP:0000316)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Round face (HP:0000311)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Breech presentation (HP:0001623)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Astigmatism (HP:0000483)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Deeply set eye (HP:0000490)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Small nail (HP:0001792)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Increased femoral anteversion (HP:0012427)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Depressed nasal tip (HP:0000437)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Pes planus (HP:0001763)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Bulbous nose (HP:0000414)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Anhydramnios (HP:0025700)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Gene: UBAP2L
Phenotype: Visual impairment (HP:0000505)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)