TaoMedAI/RareMedData huggingface dataset:
Gene: PPP1R15B
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2 (OMIM:616817)
Gene: PPP1R15B
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: PPP1R15B
Phenotype: Short nose (HP:0003196)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: PPP1R15B
Phenotype: Diabetes mellitus (HP:0000819)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: PPP1R15B
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2 (OMIM:616817)
Gene: PPP1R15B
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: PPP1R15B
Phenotype: Delayed puberty (HP:0000823)
Associated disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2 (OMIM:616817)
Gene: PPP1R15B
Phenotype: Delayed puberty (HP:0000823)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: PPP1R15B
Phenotype: Increased vertebral height (HP:0004570)
Associated disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2 (OMIM:616817)
Gene: PPP1R15B
Phenotype: Pes valgus (HP:0008081)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: PPP1R15B
Phenotype: Sparse hair (HP:0008070)
Associated disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2 (OMIM:616817)
Gene: PPP1R15B
Phenotype: Sparse hair (HP:0008070)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: PPP1R15B
Phenotype: Deviation of the 5th toe (HP:0010344)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: PPP1R15B
Phenotype: Epicanthus (HP:0000286)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: PPP1R15B
Phenotype: Epicanthus (HP:0000286)
Associated disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2 (OMIM:616817)
Gene: PPP1R15B
Phenotype: Full cheeks (HP:0000293)
Associated disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2 (OMIM:616817)
Gene: PPP1R15B
Phenotype: Full cheeks (HP:0000293)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: PPP1R15B
Phenotype: Low anterior hairline (HP:0000294)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: PPP1R15B
Phenotype: Narrow face (HP:0000275)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: PPP1R15B
Phenotype: Small face (HP:0000274)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: PPP1R15B
Phenotype: Clinodactyly (HP:0030084)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: PPP1R15B
Phenotype: Microcephaly (HP:0000252)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: PPP1R15B
Phenotype: Microcephaly (HP:0000252)
Associated disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2 (OMIM:616817)
Gene: PPP1R15B
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: PPP1R15B
Phenotype: Small for gestational age (HP:0001518)
Associated disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2 (OMIM:616817)
Gene: PPP1R15B
Phenotype: Small for gestational age (HP:0001518)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: PPP1R15B
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: PPP1R15B
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2 (OMIM:616817)
Gene: PPP1R15B
Phenotype: Growth delay (HP:0001510)
Associated disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2 (OMIM:616817)
Gene: PPP1R15B
Phenotype: Kinetic tremor (HP:0030186)
Associated disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2 (OMIM:616817)
Gene: PPP1R15B
Phenotype: Hearing impairment (HP:0000365)
Associated disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2 (OMIM:616817)
Gene: PPP1R15B
Phenotype: Narrow forehead (HP:0000341)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: PPP1R15B
Phenotype: Long philtrum (HP:0000343)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: PPP1R15B
Phenotype: Micrognathia (HP:0000347)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: PPP1R15B
Phenotype: Micrognathia (HP:0000347)
Associated disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2 (OMIM:616817)
Gene: PPP1R15B
Phenotype: Round face (HP:0000311)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: PPP1R15B
Phenotype: Short philtrum (HP:0000322)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: PPP1R15B
Phenotype: Abnormally high-pitched voice (HP:0001620)
Associated disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2 (OMIM:616817)
Gene: PPP1R15B
Phenotype: Abnormally high-pitched voice (HP:0001620)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: PPP1R15B
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: PPP1R15B
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2 (OMIM:616817)
Gene: PPP1R15B
Phenotype: Macrotia (HP:0000400)
Associated disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2 (OMIM:616817)
Gene: PPP1R15B
Phenotype: Macrotia (HP:0000400)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: PPP1R15B
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: PPP1R15B
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2 (OMIM:616817)
Gene: PPP1R15B
Phenotype: Anteverted nares (HP:0000463)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: PPP1R15B
Phenotype: Delayed myelination (HP:0012448)
Associated disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2 (OMIM:616817)
Gene: PPP1R15B
Phenotype: Delayed myelination (HP:0012448)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: PPP1R15B
Phenotype: Short neck (HP:0000470)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: PPP1R15B
Phenotype: Wide nose (HP:0000445)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: PPP1R15B
Phenotype: Blue sclerae (HP:0000592)
Associated disease: MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2 (OMIM:616817)
Gene: PPP1R15B
Phenotype: Blue sclerae (HP:0000592)
Associated disease: Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome (ORPHA:391408)
Gene: ZFYVE19
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 9 (OMIM:619849)
Gene: ZFYVE19
Phenotype: Portal hypertension (HP:0001409)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 9 (OMIM:619849)
Gene: ZFYVE19
Phenotype: Intrahepatic cholestasis (HP:0001406)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 9 (OMIM:619849)
Gene: ZFYVE19
Phenotype: Micronodular cirrhosis (HP:0001413)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 9 (OMIM:619849)
Gene: ZFYVE19
Phenotype: Diarrhea (HP:0002014)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 9 (OMIM:619849)
Gene: ZFYVE19
Phenotype: Infantile onset (HP:0003593)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 9 (OMIM:619849)
Gene: ZFYVE19
Phenotype: Congenital onset (HP:0003577)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 9 (OMIM:619849)
Gene: ZFYVE19
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 9 (OMIM:619849)
Gene: ZFYVE19
Phenotype: Fever (HP:0001945)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 9 (OMIM:619849)
Gene: ZFYVE19
Phenotype: Childhood onset (HP:0011463)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 9 (OMIM:619849)
Gene: ZFYVE19
Phenotype: Fibro-obliterative bile-duct lesion (HP:0034328)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 9 (OMIM:619849)
Gene: ZFYVE19
Phenotype: Pruritus (HP:0000989)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 9 (OMIM:619849)
Gene: ZFYVE19
Phenotype: Jaundice (HP:0000952)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 9 (OMIM:619849)
Gene: ZFYVE19
Phenotype: Malformation of the hepatic ductal plate (HP:0006563)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 9 (OMIM:619849)
Gene: ZFYVE19
Phenotype: Splenomegaly (HP:0001744)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 9 (OMIM:619849)
Gene: WDR73
Phenotype: Hand clenching (HP:0001188)
Associated disease: GALLOWAY-MOWAT SYNDROME 1 (OMIM:251300)
Gene: WDR73
Phenotype: Adducted thumb (HP:0001181)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: WDR73
Phenotype: Poor speech (HP:0002465)
Associated disease: GALLOWAY-MOWAT SYNDROME 1 (OMIM:251300)
Gene: WDR73
Phenotype: Aqueductal stenosis (HP:0002410)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: WDR73
Phenotype: Hypertonia (HP:0001276)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: WDR73
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: GALLOWAY-MOWAT SYNDROME 1 (OMIM:251300)
Gene: WDR73
Phenotype: Motor delay (HP:0001270)
Associated disease: CAMOS syndrome; Cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome; SCAR5 (ORPHA:83472)
Gene: WDR73
Phenotype: Seizure (HP:0001250)
Associated disease: CAMOS syndrome; Cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome; SCAR5 (ORPHA:83472)
Gene: WDR73
Phenotype: Seizure (HP:0001250)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: WDR73
Phenotype: Seizure (HP:0001250)
Associated disease: GALLOWAY-MOWAT SYNDROME 1 (OMIM:251300)
Gene: WDR73
Phenotype: Hypotonia (HP:0001252)
Associated disease: CAMOS syndrome; Cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome; SCAR5 (ORPHA:83472)
Gene: WDR73
Phenotype: Hypotonia (HP:0001252)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: WDR73
Phenotype: Hypotonia (HP:0001252)
Associated disease: GALLOWAY-MOWAT SYNDROME 1 (OMIM:251300)
Gene: WDR73
Phenotype: Ataxia (HP:0001251)
Associated disease: CAMOS syndrome; Cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome; SCAR5 (ORPHA:83472)
Gene: WDR73
Phenotype: Ataxia (HP:0001251)
Associated disease: GALLOWAY-MOWAT SYNDROME 1 (OMIM:251300)
Gene: WDR73
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CAMOS syndrome; Cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome; SCAR5 (ORPHA:83472)
Gene: WDR73
Phenotype: Intellectual disability (HP:0001249)
Associated disease: GALLOWAY-MOWAT SYNDROME 1 (OMIM:251300)
Gene: WDR73
Phenotype: Dysarthria (HP:0001260)
Associated disease: CAMOS syndrome; Cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome; SCAR5 (ORPHA:83472)
Gene: WDR73
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: WDR73
Phenotype: Global developmental delay (HP:0001263)
Associated disease: GALLOWAY-MOWAT SYNDROME 1 (OMIM:251300)
Gene: WDR73
Phenotype: Spasticity (HP:0001257)
Associated disease: GALLOWAY-MOWAT SYNDROME 1 (OMIM:251300)
Gene: WDR73
Phenotype: Spasticity (HP:0001257)
Associated disease: CAMOS syndrome; Cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome; SCAR5 (ORPHA:83472)
Gene: WDR73
Phenotype: Slender finger (HP:0001238)
Associated disease: GALLOWAY-MOWAT SYNDROME 1 (OMIM:251300)
Gene: WDR73
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: CAMOS syndrome; Cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome; SCAR5 (ORPHA:83472)
Gene: WDR73
Phenotype: Abnormality of immune system physiology (HP:0010978)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: WDR73
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: GALLOWAY-MOWAT SYNDROME 1 (OMIM:251300)
Gene: WDR73
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: GALLOWAY-MOWAT SYNDROME 1 (OMIM:251300)
Gene: WDR73
Phenotype: Renal insufficiency (HP:0000083)
Associated disease: CAMOS syndrome; Cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome; SCAR5 (ORPHA:83472)
Gene: WDR73
Phenotype: Focal segmental glomerulosclerosis (HP:0000097)
Associated disease: GALLOWAY-MOWAT SYNDROME 1 (OMIM:251300)
Gene: WDR73
Phenotype: Proteinuria (HP:0000093)
Associated disease: GALLOWAY-MOWAT SYNDROME 1 (OMIM:251300)
Gene: WDR73
Phenotype: Proteinuria (HP:0000093)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: WDR73
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: GALLOWAY-MOWAT SYNDROME 1 (OMIM:251300)
Gene: WDR73
Phenotype: Dystonia (HP:0001332)
Associated disease: GALLOWAY-MOWAT SYNDROME 1 (OMIM:251300)
Gene: WDR73
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GALLOWAY-MOWAT SYNDROME 1 (OMIM:251300)
Gene: WDR73
Phenotype: Dandy-Walker malformation (HP:0001305)
Associated disease: GALLOWAY-MOWAT SYNDROME 1 (OMIM:251300)
Gene: WDR73
Phenotype: Pachygyria (HP:0001302)
Associated disease: GALLOWAY-MOWAT SYNDROME 1 (OMIM:251300)
Gene: WDR73
Phenotype: Pachygyria (HP:0001302)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: WDR73
Phenotype: Abnormality of the dentition (HP:0000164)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: WDR73
Phenotype: Wide mouth (HP:0000154)
Associated disease: GALLOWAY-MOWAT SYNDROME 1 (OMIM:251300)
Gene: WDR73
Phenotype: Hypoplasia of the iris (HP:0007676)
Associated disease: GALLOWAY-MOWAT SYNDROME 1 (OMIM:251300)
Gene: WDR73
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: GALLOWAY-MOWAT SYNDROME 1 (OMIM:251300)
Gene: WDR73
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: GALLOWAY-MOWAT SYNDROME 1 (OMIM:251300)
Gene: WDR73
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: CAMOS syndrome; Cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome; SCAR5 (ORPHA:83472)
Gene: WDR73
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: WDR73
Phenotype: Nephropathy (HP:0000112)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: WDR73
Phenotype: Hiatus hernia (HP:0002036)
Associated disease: GALLOWAY-MOWAT SYNDROME 1 (OMIM:251300)
Gene: WDR73
Phenotype: Hiatus hernia (HP:0002036)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: WDR73
Phenotype: Midface retrusion (HP:0011800)
Associated disease: GALLOWAY-MOWAT SYNDROME 1 (OMIM:251300)
Gene: WDR73
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: WDR73
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: GALLOWAY-MOWAT SYNDROME 1 (OMIM:251300)
Gene: WDR73
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: GALLOWAY-MOWAT SYNDROME 1 (OMIM:251300)
Gene: WDR73
Phenotype: Joint contracture of the hand (HP:0009473)
Associated disease: GALLOWAY-MOWAT SYNDROME 1 (OMIM:251300)
Gene: WDR73
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: GALLOWAY-MOWAT SYNDROME 1 (OMIM:251300)
Gene: WDR73
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: WDR73
Phenotype: Infantile onset (HP:0003593)
Associated disease: GALLOWAY-MOWAT SYNDROME 1 (OMIM:251300)
Gene: WDR73
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: GALLOWAY-MOWAT SYNDROME 1 (OMIM:251300)
Gene: WDR73
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: WDR73
Phenotype: Hypoplasia of the ear cartilage (HP:0100720)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: WDR73
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: GALLOWAY-MOWAT SYNDROME 1 (OMIM:251300)
Gene: WDR73
Phenotype: Hypoplasia of the brainstem (HP:0002365)
Associated disease: GALLOWAY-MOWAT SYNDROME 1 (OMIM:251300)
Gene: WDR73
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: GALLOWAY-MOWAT SYNDROME 1 (OMIM:251300)
Gene: WDR73
Phenotype: Hypopigmentation of the skin (HP:0001010)
Associated disease: GALLOWAY-MOWAT SYNDROME 1 (OMIM:251300)
Gene: WDR73
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: WDR73
Phenotype: Progressive extrapyramidal movement disorder (HP:0007153)
Associated disease: CAMOS syndrome; Cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome; SCAR5 (ORPHA:83472)
Gene: WDR73
Phenotype: Nystagmus (HP:0000639)
Associated disease: GALLOWAY-MOWAT SYNDROME 1 (OMIM:251300)
Gene: WDR73
Phenotype: Diffuse mesangial sclerosis (HP:0001967)
Associated disease: GALLOWAY-MOWAT SYNDROME 1 (OMIM:251300)
Gene: WDR73
Phenotype: Optic atrophy (HP:0000648)
Associated disease: GALLOWAY-MOWAT SYNDROME 1 (OMIM:251300)
Gene: WDR73
Phenotype: Optic atrophy (HP:0000648)
Associated disease: CAMOS syndrome; Cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome; SCAR5 (ORPHA:83472)
Gene: WDR73
Phenotype: Hypotelorism (HP:0000601)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: WDR73
Phenotype: Short stature (HP:0004322)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: WDR73
Phenotype: Short stature (HP:0004322)
Associated disease: GALLOWAY-MOWAT SYNDROME 1 (OMIM:251300)
Gene: WDR73
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: GALLOWAY-MOWAT SYNDROME 1 (OMIM:251300)
Gene: WDR73
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: WDR73
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: GALLOWAY-MOWAT SYNDROME 1 (OMIM:251300)
Gene: WDR73
Phenotype: Abnormality of the skin (HP:0000951)
Associated disease: CAMOS syndrome; Cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome; SCAR5 (ORPHA:83472)
Gene: WDR73
Phenotype: Epicanthus (HP:0000286)
Associated disease: GALLOWAY-MOWAT SYNDROME 1 (OMIM:251300)
Gene: WDR73
Phenotype: Abnormal intervertebral disk morphology (HP:0005108)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: WDR73
Phenotype: Opacification of the corneal stroma (HP:0007759)
Associated disease: GALLOWAY-MOWAT SYNDROME 1 (OMIM:251300)
Gene: WDR73
Phenotype: Microcephaly (HP:0000252)
Associated disease: CAMOS syndrome; Cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome; SCAR5 (ORPHA:83472)
Gene: WDR73
Phenotype: Microcephaly (HP:0000252)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: WDR73
Phenotype: Microcephaly (HP:0000252)
Associated disease: GALLOWAY-MOWAT SYNDROME 1 (OMIM:251300)
Gene: WDR73
Phenotype: High palate (HP:0000218)
Associated disease: GALLOWAY-MOWAT SYNDROME 1 (OMIM:251300)
Gene: WDR73
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: GALLOWAY-MOWAT SYNDROME 1 (OMIM:251300)
Gene: WDR73
Phenotype: Small for gestational age (HP:0001518)
Associated disease: GALLOWAY-MOWAT SYNDROME 1 (OMIM:251300)
Gene: WDR73
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: GALLOWAY-MOWAT SYNDROME 1 (OMIM:251300)
Gene: WDR73
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: WDR73
Phenotype: Camptodactyly (HP:0012385)
Associated disease: GALLOWAY-MOWAT SYNDROME 1 (OMIM:251300)