TaoMedAI/RareMedData huggingface dataset:
Gene: PRX
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: PRX
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: PRX
Phenotype: Childhood onset (HP:0011463)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F (OMIM:614895)
Gene: PRX
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F (OMIM:614895)
Gene: PRX
Phenotype: Peripheral demyelination (HP:0011096)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F (OMIM:614895)
Gene: PRX
Phenotype: Peripheral demyelination (HP:0011096)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: PRX
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F (OMIM:614895)
Gene: PRX
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: PRX
Phenotype: Vocal cord paresis (HP:0001604)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F (OMIM:614895)
Gene: PRX
Phenotype: Increased CSF protein concentration (HP:0002922)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: PRX
Phenotype: Myelin tomacula (HP:0030175)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: PRX
Phenotype: Pes planus (HP:0001763)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: PRX
Phenotype: Hammertoe (HP:0001765)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: PRX
Phenotype: Pes cavus (HP:0001761)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 4F (OMIM:614895)
Gene: PRX
Phenotype: Pes cavus (HP:0001761)
Associated disease: HYPERTROPHIC NEUROPATHY OF DEJERINE-SOTTAS (OMIM:145900)
Gene: EPG5
Phenotype: Ocular albinism (HP:0001107)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: EPG5
Phenotype: Macular hypoplasia (HP:0001104)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: EPG5
Phenotype: Abnormal macular morphology (HP:0001103)
Associated disease: Vici syndrome; Dionisi-Vici-Sabetta-Gambarara syndrome; Corpus callosum agenesis-cataract-immunodeficiency syndrome (ORPHA:1493)
Gene: EPG5
Phenotype: Decreased proportion of CD4-positive T cells (HP:0032218)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: EPG5
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: EPG5
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Vici syndrome; Dionisi-Vici-Sabetta-Gambarara syndrome; Corpus callosum agenesis-cataract-immunodeficiency syndrome (ORPHA:1493)
Gene: EPG5
Phenotype: Motor delay (HP:0001270)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: EPG5
Phenotype: Seizure (HP:0001250)
Associated disease: Vici syndrome; Dionisi-Vici-Sabetta-Gambarara syndrome; Corpus callosum agenesis-cataract-immunodeficiency syndrome (ORPHA:1493)
Gene: EPG5
Phenotype: Seizure (HP:0001250)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: EPG5
Phenotype: Hypotonia (HP:0001252)
Associated disease: Vici syndrome; Dionisi-Vici-Sabetta-Gambarara syndrome; Corpus callosum agenesis-cataract-immunodeficiency syndrome (ORPHA:1493)
Gene: EPG5
Phenotype: Hypotonia (HP:0001252)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: EPG5
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Vici syndrome; Dionisi-Vici-Sabetta-Gambarara syndrome; Corpus callosum agenesis-cataract-immunodeficiency syndrome (ORPHA:1493)
Gene: EPG5
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Vici syndrome; Dionisi-Vici-Sabetta-Gambarara syndrome; Corpus callosum agenesis-cataract-immunodeficiency syndrome (ORPHA:1493)
Gene: EPG5
Phenotype: Global developmental delay (HP:0001263)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: EPG5
Phenotype: Macular atrophy (HP:0007401)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: EPG5
Phenotype: Abnormal posturing (HP:0002533)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: EPG5
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Vici syndrome; Dionisi-Vici-Sabetta-Gambarara syndrome; Corpus callosum agenesis-cataract-immunodeficiency syndrome (ORPHA:1493)
Gene: EPG5
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: EPG5
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Vici syndrome; Dionisi-Vici-Sabetta-Gambarara syndrome; Corpus callosum agenesis-cataract-immunodeficiency syndrome (ORPHA:1493)
Gene: EPG5
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: EPG5
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: EPG5
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: Vici syndrome; Dionisi-Vici-Sabetta-Gambarara syndrome; Corpus callosum agenesis-cataract-immunodeficiency syndrome (ORPHA:1493)
Gene: EPG5
Phenotype: Median cleft upper lip (HP:0000161)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: EPG5
Phenotype: Cleft palate (HP:0000175)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: EPG5
Phenotype: Hypoplasia of the pons (HP:0012110)
Associated disease: Vici syndrome; Dionisi-Vici-Sabetta-Gambarara syndrome; Corpus callosum agenesis-cataract-immunodeficiency syndrome (ORPHA:1493)
Gene: EPG5
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Vici syndrome; Dionisi-Vici-Sabetta-Gambarara syndrome; Corpus callosum agenesis-cataract-immunodeficiency syndrome (ORPHA:1493)
Gene: EPG5
Phenotype: Recurrent bacterial infections (HP:0002718)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: EPG5
Phenotype: Chronic mucocutaneous candidiasis (HP:0002728)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: EPG5
Phenotype: Immunodeficiency (HP:0002721)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: EPG5
Phenotype: Dysphagia (HP:0002015)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: EPG5
Phenotype: Ureteral atresia (HP:0005999)
Associated disease: Vici syndrome; Dionisi-Vici-Sabetta-Gambarara syndrome; Corpus callosum agenesis-cataract-immunodeficiency syndrome (ORPHA:1493)
Gene: EPG5
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Vici syndrome; Dionisi-Vici-Sabetta-Gambarara syndrome; Corpus callosum agenesis-cataract-immunodeficiency syndrome (ORPHA:1493)
Gene: EPG5
Phenotype: Infantile onset (HP:0003593)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: EPG5
Phenotype: Congenital onset (HP:0003577)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: EPG5
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: EPG5
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Vici syndrome; Dionisi-Vici-Sabetta-Gambarara syndrome; Corpus callosum agenesis-cataract-immunodeficiency syndrome (ORPHA:1493)
Gene: EPG5
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: EPG5
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: Vici syndrome; Dionisi-Vici-Sabetta-Gambarara syndrome; Corpus callosum agenesis-cataract-immunodeficiency syndrome (ORPHA:1493)
Gene: EPG5
Phenotype: Decreased circulating IgG2 concentration (HP:0008348)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: EPG5
Phenotype: Decreased circulating IgG2 concentration (HP:0008348)
Associated disease: Vici syndrome; Dionisi-Vici-Sabetta-Gambarara syndrome; Corpus callosum agenesis-cataract-immunodeficiency syndrome (ORPHA:1493)
Gene: EPG5
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Vici syndrome; Dionisi-Vici-Sabetta-Gambarara syndrome; Corpus callosum agenesis-cataract-immunodeficiency syndrome (ORPHA:1493)
Gene: EPG5
Phenotype: Schizencephaly (HP:0010636)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: EPG5
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Vici syndrome; Dionisi-Vici-Sabetta-Gambarara syndrome; Corpus callosum agenesis-cataract-immunodeficiency syndrome (ORPHA:1493)
Gene: EPG5
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: EPG5
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: Vici syndrome; Dionisi-Vici-Sabetta-Gambarara syndrome; Corpus callosum agenesis-cataract-immunodeficiency syndrome (ORPHA:1493)
Gene: EPG5
Phenotype: Albinism (HP:0001022)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: EPG5
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Vici syndrome; Dionisi-Vici-Sabetta-Gambarara syndrome; Corpus callosum agenesis-cataract-immunodeficiency syndrome (ORPHA:1493)
Gene: EPG5
Phenotype: Everted upper lip vermilion (HP:0010803)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: EPG5
Phenotype: Median cleft palate (HP:0009099)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: EPG5
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: EPG5
Phenotype: Nystagmus (HP:0000639)
Associated disease: Vici syndrome; Dionisi-Vici-Sabetta-Gambarara syndrome; Corpus callosum agenesis-cataract-immunodeficiency syndrome (ORPHA:1493)
Gene: EPG5
Phenotype: Nystagmus (HP:0000639)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: EPG5
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Vici syndrome; Dionisi-Vici-Sabetta-Gambarara syndrome; Corpus callosum agenesis-cataract-immunodeficiency syndrome (ORPHA:1493)
Gene: EPG5
Phenotype: Renal tubular acidosis (HP:0001947)
Associated disease: Vici syndrome; Dionisi-Vici-Sabetta-Gambarara syndrome; Corpus callosum agenesis-cataract-immunodeficiency syndrome (ORPHA:1493)
Gene: EPG5
Phenotype: Acidosis (HP:0001941)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: EPG5
Phenotype: Hypotelorism (HP:0000601)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: EPG5
Phenotype: Hypotelorism (HP:0000601)
Associated disease: Vici syndrome; Dionisi-Vici-Sabetta-Gambarara syndrome; Corpus callosum agenesis-cataract-immunodeficiency syndrome (ORPHA:1493)
Gene: EPG5
Phenotype: Short stature (HP:0004322)
Associated disease: Vici syndrome; Dionisi-Vici-Sabetta-Gambarara syndrome; Corpus callosum agenesis-cataract-immunodeficiency syndrome (ORPHA:1493)
Gene: EPG5
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: EPG5
Phenotype: Decreased circulating IgG concentration (HP:0004315)
Associated disease: Vici syndrome; Dionisi-Vici-Sabetta-Gambarara syndrome; Corpus callosum agenesis-cataract-immunodeficiency syndrome (ORPHA:1493)
Gene: EPG5
Phenotype: Abnormal thymus morphology (HP:0000777)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: EPG5
Phenotype: Recurrent viral infections (HP:0004429)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: EPG5
Phenotype: Myopathy (HP:0003198)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: EPG5
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: EPG5
Phenotype: Penile hypospadias (HP:0003244)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: EPG5
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Vici syndrome; Dionisi-Vici-Sabetta-Gambarara syndrome; Corpus callosum agenesis-cataract-immunodeficiency syndrome (ORPHA:1493)
Gene: EPG5
Phenotype: Epicanthus (HP:0000286)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: EPG5
Phenotype: Microcephaly (HP:0000252)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: EPG5
Phenotype: High palate (HP:0000218)
Associated disease: Vici syndrome; Dionisi-Vici-Sabetta-Gambarara syndrome; Corpus callosum agenesis-cataract-immunodeficiency syndrome (ORPHA:1493)
Gene: EPG5
Phenotype: High palate (HP:0000218)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: EPG5
Phenotype: Death in infancy (HP:0001522)
Associated disease: Vici syndrome; Dionisi-Vici-Sabetta-Gambarara syndrome; Corpus callosum agenesis-cataract-immunodeficiency syndrome (ORPHA:1493)
Gene: EPG5
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: EPG5
Phenotype: Failure to thrive (HP:0001508)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: EPG5
Phenotype: Recurrent fungal infections (HP:0002841)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: EPG5
Phenotype: Hypopigmentation of the fundus (HP:0007894)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: EPG5
Phenotype: Low-set ears (HP:0000369)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: EPG5
Phenotype: Narrow forehead (HP:0000341)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: EPG5
Phenotype: Long philtrum (HP:0000343)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: EPG5
Phenotype: Micrognathia (HP:0000347)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: EPG5
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Vici syndrome; Dionisi-Vici-Sabetta-Gambarara syndrome; Corpus callosum agenesis-cataract-immunodeficiency syndrome (ORPHA:1493)
Gene: EPG5
Phenotype: Hypertelorism (HP:0000316)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: EPG5
Phenotype: Dilated cardiomyopathy (HP:0001644)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: EPG5
Phenotype: Triangular face (HP:0000325)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: EPG5
Phenotype: Congestive heart failure (HP:0001635)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: EPG5
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: EPG5
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Vici syndrome; Dionisi-Vici-Sabetta-Gambarara syndrome; Corpus callosum agenesis-cataract-immunodeficiency syndrome (ORPHA:1493)
Gene: EPG5
Phenotype: Cutaneous anergy (HP:0002965)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: EPG5
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: EPG5
Phenotype: Cellular immunodeficiency (HP:0005374)
Associated disease: Vici syndrome; Dionisi-Vici-Sabetta-Gambarara syndrome; Corpus callosum agenesis-cataract-immunodeficiency syndrome (ORPHA:1493)
Gene: EPG5
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Vici syndrome; Dionisi-Vici-Sabetta-Gambarara syndrome; Corpus callosum agenesis-cataract-immunodeficiency syndrome (ORPHA:1493)
Gene: EPG5
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: EPG5
Phenotype: Left ventricular hypertrophy (HP:0001712)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: EPG5
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: EPG5
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: EPG5
Phenotype: Depressed nasal tip (HP:0000437)
Associated disease: Vici syndrome; Dionisi-Vici-Sabetta-Gambarara syndrome; Corpus callosum agenesis-cataract-immunodeficiency syndrome (ORPHA:1493)
Gene: EPG5
Phenotype: Wide nose (HP:0000445)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: EPG5
Phenotype: Decreased T cell activation (HP:0005419)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: EPG5
Phenotype: Decreased total T cell count (HP:0005403)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: EPG5
Phenotype: Cataract (HP:0000518)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: EPG5
Phenotype: Cataract (HP:0000518)
Associated disease: Vici syndrome; Dionisi-Vici-Sabetta-Gambarara syndrome; Corpus callosum agenesis-cataract-immunodeficiency syndrome (ORPHA:1493)
Gene: EPG5
Phenotype: Developmental cataract (HP:0000519)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: EPG5
Phenotype: Ptosis (HP:0000508)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: EPG5
Phenotype: Prominent forehead (HP:0011220)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: EPG5
Phenotype: Decreased total lymphocyte count (HP:0001888)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: EPG5
Phenotype: Decreased total leukocyte count (HP:0001882)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: EPG5
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: VICI SYNDROME (OMIM:242840)
Gene: WDR19
Phenotype: Brachydactyly (HP:0001156)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: WDR19
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: WDR19
Phenotype: Brachydactyly (HP:0001156)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY (OMIM:614376)
Gene: WDR19
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: WDR19
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: WDR19
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: SENIOR-LOKEN SYNDROME 8 (OMIM:616307)
Gene: WDR19
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: CRANIOECTODERMAL DYSPLASIA 4 (OMIM:614378)
Gene: WDR19
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY (OMIM:614376)
Gene: WDR19
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: NEPHRONOPHTHISIS 13 (OMIM:614377)
Gene: WDR19
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: WDR19
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: WDR19
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: CRANIOECTODERMAL DYSPLASIA 4 (OMIM:614378)
Gene: WDR19
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WDR19
Phenotype: Absent sperm axoneme central pair complex (HP:0033525)
Associated disease: SPERMATOGENIC FAILURE 72 (OMIM:619867)
Gene: WDR19
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WDR19
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR19
Phenotype: Ataxia (HP:0001251)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: WDR19
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR19
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: WDR19
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR19
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: WDR19
Phenotype: Supernumerary nipple (HP:0002558)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY (OMIM:614376)
Gene: WDR19
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: WDR19
Phenotype: Macular atrophy (HP:0007401)
Associated disease: SENIOR-LOKEN SYNDROME 8 (OMIM:616307)
Gene: WDR19
Phenotype: Short iliac bones (HP:0100866)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY (OMIM:614376)
Gene: WDR19
Phenotype: Glomerular subepithelial immune-complex deposits (HP:0033601)
Associated disease: NEPHRONOPHTHISIS 13 (OMIM:614377)
Gene: WDR19
Phenotype: Glomerular subepithelial immune-complex deposits (HP:0033601)
Associated disease: SENIOR-LOKEN SYNDROME 8 (OMIM:616307)
Gene: WDR19
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WDR19
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY (OMIM:614376)
Gene: WDR19
Phenotype: Renal hypoplasia (HP:0000089)
Associated disease: NEPHRONOPHTHISIS 13 (OMIM:614377)
Gene: WDR19
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: WDR19
Phenotype: Glomerulonephritis (HP:0000099)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY (OMIM:614376)
Gene: WDR19
Phenotype: Glomerular sclerosis (HP:0000096)
Associated disease: NEPHRONOPHTHISIS 13 (OMIM:614377)
Gene: WDR19
Phenotype: Nephronophthisis (HP:0000090)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: WDR19
Phenotype: Nephronophthisis (HP:0000090)
Associated disease: SENIOR-LOKEN SYNDROME 8 (OMIM:616307)
Gene: WDR19
Phenotype: Nephronophthisis (HP:0000090)
Associated disease: NEPHRONOPHTHISIS 13 (OMIM:614377)
Gene: WDR19
Phenotype: Nephronophthisis (HP:0000090)
Associated disease: Renal dysplasia-retinal aplasia syndrome; Senior-Loken syndrome; SLSN; Nephronophthisis with retinal dystrophy (ORPHA:3156)
Gene: WDR19
Phenotype: Proteinuria (HP:0000093)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY (OMIM:614376)
Gene: WDR19
Phenotype: Proteinuria (HP:0000093)
Associated disease: NEPHRONOPHTHISIS 13 (OMIM:614377)
Gene: WDR19
Phenotype: Abnormality of the liver (HP:0001392)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: WDR19
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: CRANIOECTODERMAL DYSPLASIA 4 (OMIM:614378)
Gene: WDR19
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: WDR19
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR19
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: CRANIOECTODERMAL DYSPLASIA 4 (OMIM:614378)
Gene: WDR19
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY (OMIM:614376)
Gene: WDR19
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: WDR19
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WDR19
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR19
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: WDR19
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR19
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: WDR19
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: WDR19
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: WDR19
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SENIOR-LOKEN SYNDROME 8 (OMIM:616307)
Gene: WDR19
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)