TaoMedAI/RareMedData huggingface dataset:
Gene: DYNC2H1
Phenotype: Narrow chest (HP:0000774)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2H1
Phenotype: Narrow chest (HP:0000774)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: DYNC2H1
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2H1
Phenotype: Short ribs (HP:0000773)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY (OMIM:613091)
Gene: DYNC2H1
Phenotype: Short ribs (HP:0000773)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2H1
Phenotype: Lethal skeletal dysplasia (HP:0005716)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2H1
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2H1
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2H1
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2H1
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2H1
Phenotype: Horizontal ribs (HP:0000888)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY (OMIM:613091)
Gene: DYNC2H1
Phenotype: Abnormal clavicle morphology (HP:0000889)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: DYNC2H1
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2H1
Phenotype: Bifid tongue (HP:0010297)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY (OMIM:613091)
Gene: DYNC2H1
Phenotype: Bifid tongue (HP:0010297)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2H1
Phenotype: Lateral clavicle hook (HP:0000895)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY (OMIM:613091)
Gene: DYNC2H1
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2H1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2H1
Phenotype: Abdominal distention (HP:0003270)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2H1
Phenotype: Absent or minimally ossified vertebral bodies (HP:0004599)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2H1
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY (OMIM:613091)
Gene: DYNC2H1
Phenotype: Preaxial polydactyly (HP:0100258)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY (OMIM:613091)
Gene: DYNC2H1
Phenotype: Short thorax (HP:0010306)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: DYNC2H1
Phenotype: Short thorax (HP:0010306)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2H1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2H1
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: DYNC2H1
Phenotype: Abnormal metaphysis morphology (HP:0000944)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2H1
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: DYNC2H1
Phenotype: Epicanthus (HP:0000286)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2H1
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2H1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2H1
Phenotype: Macrocephaly (HP:0000256)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2H1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DYNC2H1
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2H1
Phenotype: Metaphyseal spurs (HP:0005054)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY (OMIM:613091)
Gene: DYNC2H1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2H1
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2H1
Phenotype: Omphalocele (HP:0001539)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2H1
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2H1
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2H1
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY (OMIM:613091)
Gene: DYNC2H1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2H1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DYNC2H1
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2H1
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2H1
Phenotype: Thoracic hypoplasia (HP:0005257)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY (OMIM:613091)
Gene: DYNC2H1
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2H1
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2H1
Phenotype: Long philtrum (HP:0000343)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2H1
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2H1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2H1
Phenotype: Micrognathia (HP:0000347)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2H1
Phenotype: Micromelia (HP:0002983)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2H1
Phenotype: Micromelia (HP:0002983)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: DYNC2H1
Phenotype: Femoral bowing (HP:0002980)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY (OMIM:613091)
Gene: DYNC2H1
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2H1
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2H1
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2H1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2H1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2H1
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2H1
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2H1
Phenotype: Toe syndactyly (HP:0001770)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: DYNC2H1
Phenotype: Short foot (HP:0001773)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2H1
Phenotype: Short foot (HP:0001773)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: DYNC2H1
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2H1
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2H1
Phenotype: Wide nose (HP:0000445)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2H1
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY (OMIM:613091)
Gene: DYNC2H1
Phenotype: Aplasia/Hypoplasia of the lungs (HP:0006703)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: DYNC2H1
Phenotype: Cataract (HP:0000518)
Associated disease: Short rib-polydactyly syndrome type 3; Short rib-polydactyly syndrome, Verma-Naumoff type (ORPHA:93271)
Gene: DYNC2H1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DYNC2H1
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2H1
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2H1
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2H1
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: Jeune asphyxiating thoracic dystrophy; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune syndrome (ORPHA:474)
Gene: DYNC2H1
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DYNC2H1
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2H1
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DYNC2H1
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYNC2H1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DYNC2H1
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DHX40
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DHX40
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DHX40
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DHX40
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DHX40
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DHX40
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DHX40
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DHX40
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DHX40
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DHX40
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DHX40
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DHX40
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DHX40
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DHX40
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DHX40
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: C3orf52
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYPOTRICHOSIS 15 (OMIM:620177)
Gene: C3orf52
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: HYPOTRICHOSIS 15 (OMIM:620177)
Gene: YRDC
Phenotype: Adducted thumb (HP:0001181)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: YRDC
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: GALLOWAY-MOWAT SYNDROME 10 (OMIM:619609)
Gene: YRDC
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: GALLOWAY-MOWAT SYNDROME 10 (OMIM:619609)
Gene: YRDC
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: GALLOWAY-MOWAT SYNDROME 10 (OMIM:619609)
Gene: YRDC
Phenotype: Aqueductal stenosis (HP:0002410)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: YRDC
Phenotype: Hypertonia (HP:0001276)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: YRDC
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: GALLOWAY-MOWAT SYNDROME 10 (OMIM:619609)
Gene: YRDC
Phenotype: Seizure (HP:0001250)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: YRDC
Phenotype: Hypotonia (HP:0001252)
Associated disease: GALLOWAY-MOWAT SYNDROME 10 (OMIM:619609)
Gene: YRDC
Phenotype: Hypotonia (HP:0001252)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: YRDC
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: YRDC
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: YRDC
Phenotype: Proteinuria (HP:0000093)
Associated disease: GALLOWAY-MOWAT SYNDROME 10 (OMIM:619609)
Gene: YRDC
Phenotype: Proteinuria (HP:0000093)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: YRDC
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: GALLOWAY-MOWAT SYNDROME 10 (OMIM:619609)
Gene: YRDC
Phenotype: Myoclonus (HP:0001336)
Associated disease: GALLOWAY-MOWAT SYNDROME 10 (OMIM:619609)
Gene: YRDC
Phenotype: Pachygyria (HP:0001302)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: YRDC
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: YRDC
Phenotype: Podocyte foot process effacement (HP:0031266)
Associated disease: GALLOWAY-MOWAT SYNDROME 10 (OMIM:619609)
Gene: YRDC
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: YRDC
Phenotype: Nephropathy (HP:0000112)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: YRDC
Phenotype: Hiatus hernia (HP:0002036)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: YRDC
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: YRDC
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: GALLOWAY-MOWAT SYNDROME 10 (OMIM:619609)
Gene: YRDC
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: GALLOWAY-MOWAT SYNDROME 10 (OMIM:619609)
Gene: YRDC
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: YRDC
Phenotype: Infantile onset (HP:0003593)
Associated disease: GALLOWAY-MOWAT SYNDROME 10 (OMIM:619609)
Gene: YRDC
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: YRDC
Phenotype: Congenital onset (HP:0003577)
Associated disease: GALLOWAY-MOWAT SYNDROME 10 (OMIM:619609)
Gene: YRDC
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: YRDC
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: YRDC
Phenotype: Diffuse mesangial sclerosis (HP:0001967)
Associated disease: GALLOWAY-MOWAT SYNDROME 10 (OMIM:619609)
Gene: YRDC
Phenotype: Hypotelorism (HP:0000601)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: YRDC
Phenotype: Short stature (HP:0004322)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: YRDC
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: YRDC
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: GALLOWAY-MOWAT SYNDROME 10 (OMIM:619609)
Gene: YRDC
Phenotype: Congenital hypothyroidism (HP:0000851)
Associated disease: GALLOWAY-MOWAT SYNDROME 10 (OMIM:619609)
Gene: YRDC
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: YRDC
Phenotype: Microcephaly (HP:0000252)
Associated disease: GALLOWAY-MOWAT SYNDROME 10 (OMIM:619609)
Gene: YRDC
Phenotype: Microcephaly (HP:0000252)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: YRDC
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: YRDC
Phenotype: Micrognathia (HP:0000347)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: YRDC
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: YRDC
Phenotype: Premature birth (HP:0001622)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: YRDC
Phenotype: Macrotia (HP:0000400)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: YRDC
Phenotype: Secondary microcephaly (HP:0005484)
Associated disease: GALLOWAY-MOWAT SYNDROME 10 (OMIM:619609)
Gene: TOP6BL
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: HYDATIDIFORM MOLE, RECURRENT, 4 (OMIM:618432)
Gene: TOP6BL
Phenotype: Female infertility (HP:0008222)
Associated disease: HYDATIDIFORM MOLE, RECURRENT, 4 (OMIM:618432)
Gene: TOP6BL
Phenotype: Recurrent spontaneous abortion (HP:0200067)
Associated disease: HYDATIDIFORM MOLE, RECURRENT, 4 (OMIM:618432)
Gene: TOP6BL
Phenotype: Hydatidiform mole (HP:0032192)
Associated disease: HYDATIDIFORM MOLE, RECURRENT, 4 (OMIM:618432)
Gene: LRRK1
Phenotype: Clavicular sclerosis (HP:0100923)
Associated disease: OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA (OMIM:615198)
Gene: LRRK1
Phenotype: Dense metaphyseal bands (HP:0100959)
Associated disease: OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA (OMIM:615198)
Gene: LRRK1
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRRK1
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRRK1
Phenotype: Seizure (HP:0001250)
Associated disease: OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA (OMIM:615198)
Gene: LRRK1
Phenotype: Hypotonia (HP:0001252)
Associated disease: OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA (OMIM:615198)
Gene: LRRK1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRRK1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA (OMIM:615198)
Gene: LRRK1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRRK1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA (OMIM:615198)
Gene: LRRK1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA (OMIM:615198)
Gene: LRRK1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRRK1
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: LRRK1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: LRRK1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)