TaoMedAI/RareMedData huggingface dataset:
Gene: CFAP298
Phenotype: Decreased nasal nitric oxide (HP:0033036)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 26 (OMIM:615500)
Gene: CFAP298
Phenotype: Abnormal inferior vena cava morphology (HP:0025576)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP298
Phenotype: Ciliary dyskinesia (HP:0012265)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 26 (OMIM:615500)
Gene: CFAP298
Phenotype: Immotile cilia (HP:0012263)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 26 (OMIM:615500)
Gene: CFAP298
Phenotype: Absent outer dynein arms (HP:0012256)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 26 (OMIM:615500)
Gene: CFAP298
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP298
Phenotype: Abnormal sperm motility (HP:0012206)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP298
Phenotype: Reduced sperm motility (HP:0012207)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 26 (OMIM:615500)
Gene: CFAP298
Phenotype: Respiratory failure (HP:0002878)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP298
Phenotype: Rhinitis (HP:0012384)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 26 (OMIM:615500)
Gene: CFAP298
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP298
Phenotype: Airway obstruction (HP:0006536)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP298
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP298
Phenotype: Situs inversus totalis (HP:0001696)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 26 (OMIM:615500)
Gene: CFAP298
Phenotype: Hearing impairment (HP:0000365)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP298
Phenotype: Transposition of the great arteries (HP:0001669)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP298
Phenotype: Ectopic pregnancy (HP:0031456)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP298
Phenotype: Abnormal heart morphology (HP:0001627)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP298
Phenotype: Persistent left superior vena cava (HP:0005301)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP298
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP298
Phenotype: Recurrent otitis media (HP:0000403)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 26 (OMIM:615500)
Gene: CFAP298
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP298
Phenotype: Double outlet right ventricle (HP:0001719)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP298
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP298
Phenotype: Recurrent sinusitis (HP:0011108)
Associated disease: CILIARY DYSKINESIA, PRIMARY, 26 (OMIM:615500)
Gene: CFAP298
Phenotype: Asplenia (HP:0001746)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP298
Phenotype: Polysplenia (HP:0001748)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP298
Phenotype: Nasal congestion (HP:0001742)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP298
Phenotype: Recurrent sinopulmonary infections (HP:0005425)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP298
Phenotype: Recurrent mycobacterial infections (HP:0011274)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: CFAP298
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: PCD; Primary ciliary dyskinesia (ORPHA:244)
Gene: JPH1
Phenotype: Split hand (HP:0001171)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K (OMIM:607831)
Gene: JPH1
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K (OMIM:607831)
Gene: JPH1
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K (OMIM:607831)
Gene: JPH1
Phenotype: Areflexia (HP:0001284)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K (OMIM:607831)
Gene: JPH1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K (OMIM:607831)
Gene: JPH1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K (OMIM:607831)
Gene: JPH1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K (OMIM:607831)
Gene: JPH1
Phenotype: Decreased number of peripheral myelinated nerve fibers (HP:0003380)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K (OMIM:607831)
Gene: JPH1
Phenotype: Axonal regeneration (HP:0003450)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K (OMIM:607831)
Gene: JPH1
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K (OMIM:607831)
Gene: JPH1
Phenotype: Infantile onset (HP:0003593)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K (OMIM:607831)
Gene: JPH1
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K (OMIM:607831)
Gene: JPH1
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K (OMIM:607831)
Gene: JPH1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2K (OMIM:607831)
Gene: RETN
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: RETN
Phenotype: Type II diabetes mellitus (HP:0005978)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: RETN
Phenotype: Late onset (HP:0003584)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: RETN
Phenotype: Increased waist to hip ratio (HP:0031819)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: RETN
Phenotype: Insulin resistance (HP:0000855)
Associated disease: TYPE 2 DIABETES MELLITUS (OMIM:125853)
Gene: FMN2
Phenotype: Poor speech (HP:0002465)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47 (OMIM:616193)
Gene: FMN2
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47 (OMIM:616193)
Gene: FMN2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47 (OMIM:616193)
Gene: FMN2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47 (OMIM:616193)
Gene: FMN2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47 (OMIM:616193)
Gene: FMN2
Phenotype: Infantile onset (HP:0003593)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47 (OMIM:616193)
Gene: FMN2
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47 (OMIM:616193)
Gene: FMN2
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47 (OMIM:616193)
Gene: FMN2
Phenotype: Mitral valve prolapse (HP:0001634)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 47 (OMIM:616193)
Gene: DPYSL5
Phenotype: Tapered finger (HP:0001182)
Associated disease: RITSCHER-SCHINZEL SYNDROME 4 (OMIM:619435)
Gene: DPYSL5
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: DPYSL5
Phenotype: Hand polydactyly (HP:0001161)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: DPYSL5
Phenotype: Dysgenesis of the hippocampus (HP:0025101)
Associated disease: RITSCHER-SCHINZEL SYNDROME 4 (OMIM:619435)
Gene: DPYSL5
Phenotype: Mild fetal ventriculomegaly (HP:0010952)
Associated disease: RITSCHER-SCHINZEL SYNDROME 4 (OMIM:619435)
Gene: DPYSL5
Phenotype: Single umbilical artery (HP:0001195)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: DPYSL5
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: RITSCHER-SCHINZEL SYNDROME 4 (OMIM:619435)
Gene: DPYSL5
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: RITSCHER-SCHINZEL SYNDROME 4 (OMIM:619435)
Gene: DPYSL5
Phenotype: Hypotonia (HP:0001252)
Associated disease: RITSCHER-SCHINZEL SYNDROME 4 (OMIM:619435)
Gene: DPYSL5
Phenotype: Hypotonia (HP:0001252)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: DPYSL5
Phenotype: Ataxia (HP:0001251)
Associated disease: RITSCHER-SCHINZEL SYNDROME 4 (OMIM:619435)
Gene: DPYSL5
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: DPYSL5
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: DPYSL5
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: DPYSL5
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: DPYSL5
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: DPYSL5
Phenotype: Impaired toileting ability (HP:0031061)
Associated disease: RITSCHER-SCHINZEL SYNDROME 4 (OMIM:619435)
Gene: DPYSL5
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: DPYSL5
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: RITSCHER-SCHINZEL SYNDROME 4 (OMIM:619435)
Gene: DPYSL5
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: RITSCHER-SCHINZEL SYNDROME 4 (OMIM:619435)
Gene: DPYSL5
Phenotype: Micropenis (HP:0000054)
Associated disease: RITSCHER-SCHINZEL SYNDROME 4 (OMIM:619435)
Gene: DPYSL5
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: RITSCHER-SCHINZEL SYNDROME 4 (OMIM:619435)
Gene: DPYSL5
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: RITSCHER-SCHINZEL SYNDROME 4 (OMIM:619435)
Gene: DPYSL5
Phenotype: Hypospadias (HP:0000047)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: DPYSL5
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: DPYSL5
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: RITSCHER-SCHINZEL SYNDROME 4 (OMIM:619435)
Gene: DPYSL5
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: RITSCHER-SCHINZEL SYNDROME 4 (OMIM:619435)
Gene: DPYSL5
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: DPYSL5
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: DPYSL5
Phenotype: Absent speech (HP:0001344)
Associated disease: RITSCHER-SCHINZEL SYNDROME 4 (OMIM:619435)
Gene: DPYSL5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RITSCHER-SCHINZEL SYNDROME 4 (OMIM:619435)
Gene: DPYSL5
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: RITSCHER-SCHINZEL SYNDROME 4 (OMIM:619435)
Gene: DPYSL5
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: DPYSL5
Phenotype: Scoliosis (HP:0002650)
Associated disease: RITSCHER-SCHINZEL SYNDROME 4 (OMIM:619435)
Gene: DPYSL5
Phenotype: Scoliosis (HP:0002650)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: DPYSL5
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: RITSCHER-SCHINZEL SYNDROME 4 (OMIM:619435)
Gene: DPYSL5
Phenotype: Narrow palate (HP:0000189)
Associated disease: RITSCHER-SCHINZEL SYNDROME 4 (OMIM:619435)
Gene: DPYSL5
Phenotype: Cleft palate (HP:0000175)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: DPYSL5
Phenotype: Wide mouth (HP:0000154)
Associated disease: RITSCHER-SCHINZEL SYNDROME 4 (OMIM:619435)
Gene: DPYSL5
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: DPYSL5
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: DPYSL5
Phenotype: Anal atresia (HP:0002023)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: DPYSL5
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: DPYSL5
Phenotype: Dysphagia (HP:0002015)
Associated disease: RITSCHER-SCHINZEL SYNDROME 4 (OMIM:619435)
Gene: DPYSL5
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: DPYSL5
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: RITSCHER-SCHINZEL SYNDROME 4 (OMIM:619435)
Gene: DPYSL5
Phenotype: Chorea (HP:0002072)
Associated disease: RITSCHER-SCHINZEL SYNDROME 4 (OMIM:619435)
Gene: DPYSL5
Phenotype: Ulnar deviation of the hand (HP:0009487)
Associated disease: RITSCHER-SCHINZEL SYNDROME 4 (OMIM:619435)
Gene: DPYSL5
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: DPYSL5
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: DPYSL5
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: DPYSL5
Phenotype: Impulsivity (HP:0100710)
Associated disease: RITSCHER-SCHINZEL SYNDROME 4 (OMIM:619435)
Gene: DPYSL5
Phenotype: Curly hair (HP:0002212)
Associated disease: RITSCHER-SCHINZEL SYNDROME 4 (OMIM:619435)
Gene: DPYSL5
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: DPYSL5
Phenotype: Premature anterior fontanel closure (HP:0008491)
Associated disease: RITSCHER-SCHINZEL SYNDROME 4 (OMIM:619435)
Gene: DPYSL5
Phenotype: Athetosis (HP:0002305)
Associated disease: RITSCHER-SCHINZEL SYNDROME 4 (OMIM:619435)
Gene: DPYSL5
Phenotype: Narrow palm (HP:0004283)
Associated disease: RITSCHER-SCHINZEL SYNDROME 4 (OMIM:619435)
Gene: DPYSL5
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: DPYSL5
Phenotype: Iris coloboma (HP:0000612)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: DPYSL5
Phenotype: Hypotelorism (HP:0000601)
Associated disease: RITSCHER-SCHINZEL SYNDROME 4 (OMIM:619435)
Gene: DPYSL5
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: RITSCHER-SCHINZEL SYNDROME 4 (OMIM:619435)
Gene: DPYSL5
Phenotype: Short stature (HP:0004322)
Associated disease: RITSCHER-SCHINZEL SYNDROME 4 (OMIM:619435)
Gene: DPYSL5
Phenotype: Short stature (HP:0004322)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: DPYSL5
Phenotype: Hypoplastic left heart (HP:0004383)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: DPYSL5
Phenotype: Limited knee extension (HP:0003066)
Associated disease: RITSCHER-SCHINZEL SYNDROME 4 (OMIM:619435)
Gene: DPYSL5
Phenotype: Ectopic anus (HP:0004397)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: DPYSL5
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: RITSCHER-SCHINZEL SYNDROME 4 (OMIM:619435)
Gene: DPYSL5
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: RITSCHER-SCHINZEL SYNDROME 4 (OMIM:619435)
Gene: DPYSL5
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: RITSCHER-SCHINZEL SYNDROME 4 (OMIM:619435)
Gene: DPYSL5
Phenotype: Autistic behavior (HP:0000729)
Associated disease: RITSCHER-SCHINZEL SYNDROME 4 (OMIM:619435)
Gene: DPYSL5
Phenotype: Short nose (HP:0003196)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: DPYSL5
Phenotype: Missing ribs (HP:0000921)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: DPYSL5
Phenotype: Adrenal hypoplasia (HP:0000835)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: DPYSL5
Phenotype: Abnormal hip bone morphology (HP:0003272)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: DPYSL5
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: DPYSL5
Phenotype: Prominent occiput (HP:0000269)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: DPYSL5
Phenotype: Hip dislocation (HP:0002827)
Associated disease: RITSCHER-SCHINZEL SYNDROME 4 (OMIM:619435)
Gene: DPYSL5
Phenotype: Kyphosis (HP:0002808)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: DPYSL5
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: DPYSL5
Phenotype: Abnormal cranial suture/fontanelle morphology (HP:0000235)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: DPYSL5
Phenotype: Brachycephaly (HP:0000248)
Associated disease: RITSCHER-SCHINZEL SYNDROME 4 (OMIM:619435)
Gene: DPYSL5
Phenotype: High palate (HP:0000218)
Associated disease: RITSCHER-SCHINZEL SYNDROME 4 (OMIM:619435)
Gene: DPYSL5
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: RITSCHER-SCHINZEL SYNDROME 4 (OMIM:619435)
Gene: DPYSL5
Phenotype: Death in infancy (HP:0001522)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: DPYSL5
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: DPYSL5
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: DPYSL5
Phenotype: Hemivertebrae (HP:0002937)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: DPYSL5
Phenotype: Low-set ears (HP:0000369)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: DPYSL5
Phenotype: Micrognathia (HP:0000347)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: DPYSL5
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: DPYSL5
Phenotype: Hypertelorism (HP:0000316)
Associated disease: RITSCHER-SCHINZEL SYNDROME 4 (OMIM:619435)
Gene: DPYSL5
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: DPYSL5
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: DPYSL5
Phenotype: Facial hemangioma (HP:0000329)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: DPYSL5
Phenotype: Short philtrum (HP:0000322)
Associated disease: RITSCHER-SCHINZEL SYNDROME 4 (OMIM:619435)
Gene: DPYSL5
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: DPYSL5
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: DPYSL5
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: DPYSL5
Phenotype: Abnormal mitral valve morphology (HP:0001633)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: DPYSL5
Phenotype: Atrioventricular canal defect (HP:0006695)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: DPYSL5
Phenotype: Macrotia (HP:0000400)
Associated disease: RITSCHER-SCHINZEL SYNDROME 4 (OMIM:619435)
Gene: DPYSL5
Phenotype: Abnormal tricuspid valve morphology (HP:0001702)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: DPYSL5
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: DPYSL5
Phenotype: Strabismus (HP:0000486)
Associated disease: RITSCHER-SCHINZEL SYNDROME 4 (OMIM:619435)
Gene: DPYSL5
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: RITSCHER-SCHINZEL SYNDROME 4 (OMIM:619435)
Gene: DPYSL5
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: RITSCHER-SCHINZEL SYNDROME 4 (OMIM:619435)
Gene: DPYSL5
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: DPYSL5
Phenotype: Deeply set eye (HP:0000490)
Associated disease: RITSCHER-SCHINZEL SYNDROME 4 (OMIM:619435)
Gene: DPYSL5
Phenotype: Short neck (HP:0000470)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: DPYSL5
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: RITSCHER-SCHINZEL SYNDROME 4 (OMIM:619435)
Gene: DPYSL5
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: DPYSL5
Phenotype: Aplasia/Hypoplasia of the nipples (HP:0006709)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: DPYSL5
Phenotype: Proptosis (HP:0000520)
Associated disease: RITSCHER-SCHINZEL SYNDROME 4 (OMIM:619435)
Gene: DPYSL5
Phenotype: Glaucoma (HP:0000501)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: DPYSL5
Phenotype: Hypoplastic fingernail (HP:0001804)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: DPYSL5
Phenotype: Chorioretinal coloboma (HP:0000567)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: STARD7
Phenotype: EEG with photoparoxysmal response (HP:0010852)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2 (OMIM:607876)
Gene: STARD7
Phenotype: Ataxia (HP:0001251)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2 (OMIM:607876)