TaoMedAI/RareMedData huggingface dataset:
Gene: NADSYN1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NADSYN1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NADSYN1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NADSYN1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NADSYN1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NADSYN1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NADSYN1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NADSYN1
Phenotype: Anomalous origin of left coronary artery from the pulmonary artery (HP:0011638)
Associated disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3 (OMIM:618845)
Gene: NADSYN1
Phenotype: Short thorax (HP:0010306)
Associated disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3 (OMIM:618845)
Gene: NADSYN1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NADSYN1
Phenotype: Sacral dimple (HP:0000960)
Associated disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3 (OMIM:618845)
Gene: NADSYN1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NADSYN1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NADSYN1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NADSYN1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NADSYN1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NADSYN1
Phenotype: Death in infancy (HP:0001522)
Associated disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3 (OMIM:618845)
Gene: NADSYN1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NADSYN1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NADSYN1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NADSYN1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NADSYN1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NADSYN1
Phenotype: Vertebral fusion (HP:0002948)
Associated disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3 (OMIM:618845)
Gene: NADSYN1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NADSYN1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NADSYN1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NADSYN1
Phenotype: Bicuspid aortic valve (HP:0001647)
Associated disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3 (OMIM:618845)
Gene: NADSYN1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3 (OMIM:618845)
Gene: NADSYN1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NADSYN1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NADSYN1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NADSYN1
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3 (OMIM:618845)
Gene: NADSYN1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NADSYN1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NADSYN1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NADSYN1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NADSYN1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: VERTEBRAL, CARDIAC, RENAL, AND LIMB DEFECTS SYNDROME 3 (OMIM:618845)
Gene: NADSYN1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NADSYN1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NADSYN1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NADSYN1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NADSYN1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: NADSYN1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: PBRM1
Phenotype: Sporadic (HP:0003745)
Associated disease: RENAL CELL CARCINOMA, NONPAPILLARY (OMIM:144700)
Gene: PBRM1
Phenotype: Renal cell carcinoma (HP:0005584)
Associated disease: RENAL CELL CARCINOMA, NONPAPILLARY (OMIM:144700)
Gene: SETD5
Phenotype: Tapered finger (HP:0001182)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: SETD5
Phenotype: Motor delay (HP:0001270)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: SETD5
Phenotype: Hypotonia (HP:0001252)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: SETD5
Phenotype: Ataxia (HP:0001251)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: SETD5
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 (OMIM:615761)
Gene: SETD5
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 (OMIM:615761)
Gene: SETD5
Phenotype: 2-3 finger cutaneous syndactyly (HP:0001233)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: SETD5
Phenotype: Hypospadias (HP:0000047)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 (OMIM:615761)
Gene: SETD5
Phenotype: Absent speech (HP:0001344)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: SETD5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 (OMIM:615761)
Gene: SETD5
Phenotype: Scoliosis (HP:0002650)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: SETD5
Phenotype: Scoliosis (HP:0002650)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 (OMIM:615761)
Gene: SETD5
Phenotype: Cleft palate (HP:0000175)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: SETD5
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: SETD5
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: SETD5
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 (OMIM:615761)
Gene: SETD5
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: SETD5
Phenotype: Deep philtrum (HP:0002002)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: SETD5
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 (OMIM:615761)
Gene: SETD5
Phenotype: Lower limb asymmetry (HP:0100559)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 (OMIM:615761)
Gene: SETD5
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: SETD5
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: SETD5
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: SETD5
Phenotype: Proximal placement of thumb (HP:0009623)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: SETD5
Phenotype: Infantile onset (HP:0003593)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 (OMIM:615761)
Gene: SETD5
Phenotype: Abnormal thalamus morphology (HP:0010663)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: SETD5
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: SETD5
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 (OMIM:615761)
Gene: SETD5
Phenotype: Broad distal phalanx of finger (HP:0009836)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 (OMIM:615761)
Gene: SETD5
Phenotype: Drooling (HP:0002307)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 (OMIM:615761)
Gene: SETD5
Phenotype: Broad hallux (HP:0010055)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: SETD5
Phenotype: Dental crowding (HP:0000678)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 (OMIM:615761)
Gene: SETD5
Phenotype: Broad thumb (HP:0011304)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: SETD5
Phenotype: Synophrys (HP:0000664)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 (OMIM:615761)
Gene: SETD5
Phenotype: Acromesomelia (HP:0003086)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: SETD5
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 (OMIM:615761)
Gene: SETD5
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: SETD5
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: SETD5
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 (OMIM:615761)
Gene: SETD5
Phenotype: Autistic behavior (HP:0000729)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: SETD5
Phenotype: Autistic behavior (HP:0000729)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 (OMIM:615761)
Gene: SETD5
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 (OMIM:615761)
Gene: SETD5
Phenotype: Cerebral white matter atrophy (HP:0012762)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: SETD5
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: SETD5
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 (OMIM:615761)
Gene: SETD5
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: SETD5
Phenotype: Sacral dimple (HP:0000960)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 (OMIM:615761)
Gene: SETD5
Phenotype: Sacral dimple (HP:0000960)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: SETD5
Phenotype: Epicanthus (HP:0000286)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: SETD5
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 (OMIM:615761)
Gene: SETD5
Phenotype: Kyphosis (HP:0002808)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 (OMIM:615761)
Gene: SETD5
Phenotype: Knee flexion contracture (HP:0006380)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: SETD5
Phenotype: Brachycephaly (HP:0000248)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: SETD5
Phenotype: Brachycephaly (HP:0000248)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 (OMIM:615761)
Gene: SETD5
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: SETD5
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 (OMIM:615761)
Gene: SETD5
Phenotype: Congenital pseudoarthrosis of the clavicle (HP:0006585)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: SETD5
Phenotype: Abnormality of the outer ear (HP:0000356)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: SETD5
Phenotype: Low-set ears (HP:0000369)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 (OMIM:615761)
Gene: SETD5
Phenotype: Narrow forehead (HP:0000341)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: SETD5
Phenotype: Long philtrum (HP:0000343)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 (OMIM:615761)
Gene: SETD5
Phenotype: High forehead (HP:0000348)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 (OMIM:615761)
Gene: SETD5
Phenotype: Micrognathia (HP:0000347)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: SETD5
Phenotype: Micrognathia (HP:0000347)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 (OMIM:615761)
Gene: SETD5
Phenotype: Coronary artery atherosclerosis (HP:0001677)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: SETD5
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 (OMIM:615761)
Gene: SETD5
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: SETD5
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: SETD5
Phenotype: Short philtrum (HP:0000322)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: SETD5
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: SETD5
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: SETD5
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: SETD5
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: SETD5
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: SETD5
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 (OMIM:615761)
Gene: SETD5
Phenotype: Astigmatism (HP:0000483)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 (OMIM:615761)
Gene: SETD5
Phenotype: Strabismus (HP:0000486)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 (OMIM:615761)
Gene: SETD5
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: SETD5
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 (OMIM:615761)
Gene: SETD5
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: SETD5
Phenotype: Anteverted nares (HP:0000463)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 (OMIM:615761)
Gene: SETD5
Phenotype: Prominent nose (HP:0000448)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: SETD5
Phenotype: Bulbous nose (HP:0000414)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 (OMIM:615761)
Gene: SETD5
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 (OMIM:615761)
Gene: SETD5
Phenotype: Overlapping toe (HP:0001845)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: SETD5
Phenotype: Sandal gap (HP:0001852)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 (OMIM:615761)
Gene: SETD5
Phenotype: Ptosis (HP:0000508)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 (OMIM:615761)
Gene: SETD5
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 (OMIM:615761)
Gene: SETD5
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: SETD5
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3; 3p25.3 microdeletion syndrome (ORPHA:435638)
Gene: SETD5
Phenotype: Myopia (HP:0000545)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 (OMIM:615761)
Gene: ATAD3A
Phenotype: Fetal distress (HP:0025116)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL (OMIM:618810)
Gene: ATAD3A
Phenotype: Poor speech (HP:0002465)
Associated disease: Ocular anomalies-axonal neuropathy-developmental delay syndrome; Harel-Yoon syndrome (ORPHA:496790)
Gene: ATAD3A
Phenotype: Lower limb amyotrophy (HP:0007210)
Associated disease: Ocular anomalies-axonal neuropathy-developmental delay syndrome; Harel-Yoon syndrome (ORPHA:496790)
Gene: ATAD3A
Phenotype: Encephalopathy (HP:0001298)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL (OMIM:618810)
Gene: ATAD3A
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: Ocular anomalies-axonal neuropathy-developmental delay syndrome; Harel-Yoon syndrome (ORPHA:496790)
Gene: ATAD3A
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: HAREL-YOON SYNDROME (OMIM:617183)
Gene: ATAD3A
Phenotype: Seizure (HP:0001250)
Associated disease: Ocular anomalies-axonal neuropathy-developmental delay syndrome; Harel-Yoon syndrome (ORPHA:496790)
Gene: ATAD3A
Phenotype: Seizure (HP:0001250)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL (OMIM:618810)
Gene: ATAD3A
Phenotype: Hypotonia (HP:0001252)
Associated disease: HAREL-YOON SYNDROME (OMIM:617183)
Gene: ATAD3A
Phenotype: Hypotonia (HP:0001252)
Associated disease: PONTOCEREBELLAR HYPOPLASIA, HYPOTONIA, AND RESPIRATORY INSUFFICIENCY SYNDROME, NEONATAL LETHAL (OMIM:618810)
Gene: ATAD3A
Phenotype: Ataxia (HP:0001251)
Associated disease: HAREL-YOON SYNDROME (OMIM:617183)
Gene: ATAD3A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Ocular anomalies-axonal neuropathy-developmental delay syndrome; Harel-Yoon syndrome (ORPHA:496790)
Gene: ATAD3A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: HAREL-YOON SYNDROME (OMIM:617183)
Gene: ATAD3A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Ocular anomalies-axonal neuropathy-developmental delay syndrome; Harel-Yoon syndrome (ORPHA:496790)
Gene: ATAD3A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: HAREL-YOON SYNDROME (OMIM:617183)