TaoMedAI/RareMedData huggingface dataset:
Gene: CABP4
Phenotype: Visual impairment (HP:0000505)
Associated disease: CONE-ROD SYNAPTIC DISORDER, CONGENITAL NONPROGRESSIVE (OMIM:610427)
Gene: CABP4
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CABP4
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: CABP4
Phenotype: Color vision defect (HP:0000551)
Associated disease: CONE-ROD SYNAPTIC DISORDER, CONGENITAL NONPROGRESSIVE (OMIM:610427)
Gene: CABP4
Phenotype: Color vision defect (HP:0000551)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: CABP4
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CABP4
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CABP4
Phenotype: Myopia (HP:0000545)
Associated disease: Congenital essential nyctalopia; Congenital stationary night blindness (ORPHA:215)
Gene: COQ9
Phenotype: Encephalopathy (HP:0001298)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 5 (OMIM:614654)
Gene: COQ9
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 5 (OMIM:614654)
Gene: COQ9
Phenotype: Hypertonia (HP:0001276)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 5 (OMIM:614654)
Gene: COQ9
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 5 (OMIM:614654)
Gene: COQ9
Phenotype: Seizure (HP:0001250)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 5 (OMIM:614654)
Gene: COQ9
Phenotype: Hypotonia (HP:0001252)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 5 (OMIM:614654)
Gene: COQ9
Phenotype: Global developmental delay (HP:0001263)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 5 (OMIM:614654)
Gene: COQ9
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 5 (OMIM:614654)
Gene: COQ9
Phenotype: Dystonia (HP:0001332)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 5 (OMIM:614654)
Gene: COQ9
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 5 (OMIM:614654)
Gene: COQ9
Phenotype: Hyperalaninemia (HP:0003348)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 5 (OMIM:614654)
Gene: COQ9
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 5 (OMIM:614654)
Gene: COQ9
Phenotype: Hypothermia (HP:0002045)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 5 (OMIM:614654)
Gene: COQ9
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 5 (OMIM:614654)
Gene: COQ9
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 5 (OMIM:614654)
Gene: COQ9
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 5 (OMIM:614654)
Gene: COQ9
Phenotype: Neonatal onset (HP:0003623)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 5 (OMIM:614654)
Gene: COQ9
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 5 (OMIM:614654)
Gene: COQ9
Phenotype: Decreased level of coenzyme Q10 in skeletal muscle (HP:0034369)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 5 (OMIM:614654)
Gene: COQ9
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 5 (OMIM:614654)
Gene: COQ9
Phenotype: Weak cry (HP:0001612)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 5 (OMIM:614654)
Gene: COQ9
Phenotype: Bradycardia (HP:0001662)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 5 (OMIM:614654)
Gene: COQ9
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 5 (OMIM:614654)
Gene: COQ9
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: COENZYME Q10 DEFICIENCY, PRIMARY, 5 (OMIM:614654)
Gene: VPS35L
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: VPS35L
Phenotype: Hand polydactyly (HP:0001161)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: VPS35L
Phenotype: Single umbilical artery (HP:0001195)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: VPS35L
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VPS35L
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VPS35L
Phenotype: Hypotonia (HP:0001252)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: VPS35L
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS35L
Phenotype: Intellectual disability (HP:0001249)
Associated disease: RITSCHER-SCHINZEL SYNDROME 3 (OMIM:619135)
Gene: VPS35L
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: VPS35L
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS35L
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: VPS35L
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS35L
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: VPS35L
Phenotype: Shortening of all distal phalanges of the fingers (HP:0006118)
Associated disease: RITSCHER-SCHINZEL SYNDROME 3 (OMIM:619135)
Gene: VPS35L
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: VPS35L
Phenotype: Hypoplasia of penis (HP:0008736)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: VPS35L
Phenotype: Poorly ossified vertebrae (HP:0100856)
Associated disease: RITSCHER-SCHINZEL SYNDROME 3 (OMIM:619135)
Gene: VPS35L
Phenotype: Periventricular nodular heterotopia (HP:0032388)
Associated disease: RITSCHER-SCHINZEL SYNDROME 3 (OMIM:619135)
Gene: VPS35L
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: VPS35L
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: RITSCHER-SCHINZEL SYNDROME 3 (OMIM:619135)
Gene: VPS35L
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VPS35L
Phenotype: Delayed ability to sit (HP:0025336)
Associated disease: RITSCHER-SCHINZEL SYNDROME 3 (OMIM:619135)
Gene: VPS35L
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS35L
Phenotype: Hypospadias (HP:0000047)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: VPS35L
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: VPS35L
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VPS35L
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: RITSCHER-SCHINZEL SYNDROME 3 (OMIM:619135)
Gene: VPS35L
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS35L
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: RITSCHER-SCHINZEL SYNDROME 3 (OMIM:619135)
Gene: VPS35L
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: VPS35L
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: VPS35L
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS35L
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VPS35L
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS35L
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS35L
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RITSCHER-SCHINZEL SYNDROME 3 (OMIM:619135)
Gene: VPS35L
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VPS35L
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: VPS35L
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: RITSCHER-SCHINZEL SYNDROME 3 (OMIM:619135)
Gene: VPS35L
Phenotype: Scoliosis (HP:0002650)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: VPS35L
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VPS35L
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS35L
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VPS35L
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS35L
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS35L
Phenotype: Cleft palate (HP:0000175)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: VPS35L
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS35L
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: VPS35L
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: VPS35L
Phenotype: Anal atresia (HP:0002023)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: VPS35L
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: VPS35L
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: VPS35L
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VPS35L
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS35L
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: VPS35L
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: VPS35L
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: VPS35L
Phenotype: Congenital onset (HP:0003577)
Associated disease: RITSCHER-SCHINZEL SYNDROME 3 (OMIM:619135)
Gene: VPS35L
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: VPS35L
Phenotype: Epiphyseal stippling (HP:0010655)
Associated disease: RITSCHER-SCHINZEL SYNDROME 3 (OMIM:619135)
Gene: VPS35L
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS35L
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: RITSCHER-SCHINZEL SYNDROME 3 (OMIM:619135)
Gene: VPS35L
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VPS35L
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS35L
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS35L
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VPS35L
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VPS35L
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VPS35L
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS35L
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VPS35L
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VPS35L
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: VPS35L
Phenotype: Iris coloboma (HP:0000612)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: VPS35L
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS35L
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VPS35L
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS35L
Phenotype: Short 1st metacarpal (HP:0010034)
Associated disease: RITSCHER-SCHINZEL SYNDROME 3 (OMIM:619135)
Gene: VPS35L
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: RITSCHER-SCHINZEL SYNDROME 3 (OMIM:619135)
Gene: VPS35L
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS35L
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VPS35L
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS35L
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS35L
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS35L
Phenotype: Short stature (HP:0004322)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: VPS35L
Phenotype: Hypoplastic left heart (HP:0004383)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: VPS35L
Phenotype: Ectopic anus (HP:0004397)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: VPS35L
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VPS35L
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VPS35L
Phenotype: Ulnar bowing (HP:0003031)
Associated disease: RITSCHER-SCHINZEL SYNDROME 3 (OMIM:619135)
Gene: VPS35L
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS35L
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS35L
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS35L
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS35L
Phenotype: Hypoplasia of the ulna (HP:0003022)
Associated disease: RITSCHER-SCHINZEL SYNDROME 3 (OMIM:619135)
Gene: VPS35L
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS35L
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS35L
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS35L
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS35L
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS35L
Phenotype: Short first metatarsal (HP:0010105)
Associated disease: RITSCHER-SCHINZEL SYNDROME 3 (OMIM:619135)
Gene: VPS35L
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS35L
Phenotype: Short nose (HP:0003196)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: VPS35L
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS35L
Phenotype: Missing ribs (HP:0000921)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: VPS35L
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS35L
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: RITSCHER-SCHINZEL SYNDROME 3 (OMIM:619135)
Gene: VPS35L
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS35L
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VPS35L
Phenotype: Adrenal hypoplasia (HP:0000835)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: VPS35L
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VPS35L
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS35L
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VPS35L
Phenotype: Abnormal hip bone morphology (HP:0003272)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: VPS35L
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS35L
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS35L
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS35L
Phenotype: Wide anterior fontanel (HP:0000260)
Associated disease: RITSCHER-SCHINZEL SYNDROME 3 (OMIM:619135)
Gene: VPS35L
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: VPS35L
Phenotype: Prominent occiput (HP:0000269)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: VPS35L
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS35L
Phenotype: Kyphosis (HP:0002808)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: VPS35L
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: VPS35L
Phenotype: Abnormal cranial suture/fontanelle morphology (HP:0000235)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: VPS35L
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS35L
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: RITSCHER-SCHINZEL SYNDROME 3 (OMIM:619135)
Gene: VPS35L
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VPS35L
Phenotype: Death in infancy (HP:0001522)
Associated disease: RITSCHER-SCHINZEL SYNDROME 3 (OMIM:619135)
Gene: VPS35L
Phenotype: Death in infancy (HP:0001522)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: VPS35L
Phenotype: Orofacial cleft (HP:0000202)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: VPS35L
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VPS35L
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS35L
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VPS35L
Phenotype: Preauricular skin tag (HP:0000384)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: VPS35L
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS35L
Phenotype: Hemivertebrae (HP:0002937)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: VPS35L
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS35L
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VPS35L
Phenotype: Low-set ears (HP:0000369)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: VPS35L
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS35L
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VPS35L
Phenotype: Micrognathia (HP:0000347)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: VPS35L
Phenotype: Micrognathia (HP:0000347)
Associated disease: RITSCHER-SCHINZEL SYNDROME 3 (OMIM:619135)
Gene: VPS35L
Phenotype: Aortic valve stenosis (HP:0001650)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: VPS35L
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: VPS35L
Phenotype: Hypertelorism (HP:0000316)
Associated disease: RITSCHER-SCHINZEL SYNDROME 3 (OMIM:619135)
Gene: VPS35L
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS35L
Phenotype: Pulmonic stenosis (HP:0001642)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: VPS35L
Phenotype: Facial hemangioma (HP:0000329)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: VPS35L
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: VPS35L
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: VPS35L
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: VPS35L
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)
Gene: VPS35L
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: VPS35L
Phenotype: Abnormal mitral valve morphology (HP:0001633)
Associated disease: Ritscher-Schinzel syndrome; Craniocerebellocardiac dysplasia; 3C syndrome (ORPHA:7)