TaoMedAI/RareMedData huggingface dataset:
Gene: NUP133
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP133
Phenotype: Periorbital edema (HP:0100539)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP133
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: NUP133
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: GALLOWAY-MOWAT SYNDROME 8 (OMIM:618349)
Gene: NUP133
Phenotype: Delayed CNS myelination (HP:0002188)
Associated disease: GALLOWAY-MOWAT SYNDROME 8 (OMIM:618349)
Gene: NUP133
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: GALLOWAY-MOWAT SYNDROME 8 (OMIM:618349)
Gene: NUP133
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: NUP133
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: NUP133
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: NUP133
Phenotype: Focal cortical dysplasia (HP:0032046)
Associated disease: GALLOWAY-MOWAT SYNDROME 8 (OMIM:618349)
Gene: NUP133
Phenotype: Respiratory tract infection (HP:0011947)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP133
Phenotype: Progressive (HP:0003676)
Associated disease: NEPHROTIC SYNDROME, TYPE 18 (OMIM:618177)
Gene: NUP133
Phenotype: EEG abnormality (HP:0002353)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: NUP133
Phenotype: Headache (HP:0002315)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP133
Phenotype: Neonatal onset (HP:0003623)
Associated disease: GALLOWAY-MOWAT SYNDROME 8 (OMIM:618349)
Gene: NUP133
Phenotype: Juvenile onset (HP:0003621)
Associated disease: NEPHROTIC SYNDROME, TYPE 18 (OMIM:618177)
Gene: NUP133
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP133
Phenotype: Diffuse mesangial sclerosis (HP:0001967)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP133
Phenotype: Fever (HP:0001945)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP133
Phenotype: Hypotelorism (HP:0000601)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: NUP133
Phenotype: Short stature (HP:0004322)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: NUP133
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: GALLOWAY-MOWAT SYNDROME 8 (OMIM:618349)
Gene: NUP133
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP133
Phenotype: Hemiplegia/hemiparesis (HP:0004374)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: NUP133
Phenotype: Irritability (HP:0000737)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP133
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP133
Phenotype: Childhood onset (HP:0011463)
Associated disease: GALLOWAY-MOWAT SYNDROME 8 (OMIM:618349)
Gene: NUP133
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEPHROTIC SYNDROME, TYPE 18 (OMIM:618177)
Gene: NUP133
Phenotype: Hematuria (HP:0000790)
Associated disease: GALLOWAY-MOWAT SYNDROME 8 (OMIM:618349)
Gene: NUP133
Phenotype: Edema (HP:0000969)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP133
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: NUP133
Phenotype: Microcephaly (HP:0000252)
Associated disease: GALLOWAY-MOWAT SYNDROME 8 (OMIM:618349)
Gene: NUP133
Phenotype: Microcephaly (HP:0000252)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: NUP133
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: NUP133
Phenotype: Foamy urine (HP:0031504)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: NUP133
Phenotype: Hearing impairment (HP:0000365)
Associated disease: GALLOWAY-MOWAT SYNDROME 8 (OMIM:618349)
Gene: NUP133
Phenotype: Narrow forehead (HP:0000341)
Associated disease: GALLOWAY-MOWAT SYNDROME 8 (OMIM:618349)
Gene: NUP133
Phenotype: Micrognathia (HP:0000347)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: NUP133
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: NUP133
Phenotype: Premature birth (HP:0001622)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: NUP133
Phenotype: Macrotia (HP:0000400)
Associated disease: Microcephaly-hiatus hernia-nephrotic syndrome; Galloway-Mowat syndrome; Nephrosis-neuronal dysmigration syndrome; Galloway syndrome (ORPHA:2065)
Gene: NUP133
Phenotype: Strabismus (HP:0000486)
Associated disease: GALLOWAY-MOWAT SYNDROME 8 (OMIM:618349)
Gene: NUP133
Phenotype: Brain atrophy (HP:0012444)
Associated disease: GALLOWAY-MOWAT SYNDROME 8 (OMIM:618349)
Gene: NUP133
Phenotype: Steroid-resistant nephrotic syndrome (HP:0012588)
Associated disease: NEPHROTIC SYNDROME, TYPE 18 (OMIM:618177)
Gene: NUP133
Phenotype: Minimal change glomerulonephritis (HP:0012579)
Associated disease: Familial idiopathic steroid-resistant nephrotic syndrome; Hereditary SRNS; Monogenic SRNS; Genetic SRNS; Isolated SRNS; Hereditary steroid-resistant nephrotic syndrome; Genetic FSGS (ORPHA:656)
Gene: AGK
Phenotype: Corneal dystrophy (HP:0001131)
Associated disease: Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome; Sengers syndrome (ORPHA:1369)
Gene: AGK
Phenotype: Mitochondrial myopathy (HP:0003737)
Associated disease: SENGERS SYNDROME (OMIM:212350)
Gene: AGK
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: SENGERS SYNDROME (OMIM:212350)
Gene: AGK
Phenotype: Motor delay (HP:0001270)
Associated disease: SENGERS SYNDROME (OMIM:212350)
Gene: AGK
Phenotype: Mental deterioration (HP:0001268)
Associated disease: SENGERS SYNDROME (OMIM:212350)
Gene: AGK
Phenotype: Hypotonia (HP:0001252)
Associated disease: SENGERS SYNDROME (OMIM:212350)
Gene: AGK
Phenotype: Muscle weakness (HP:0001324)
Associated disease: SENGERS SYNDROME (OMIM:212350)
Gene: AGK
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CATARACT 38 (OMIM:614691)
Gene: AGK
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SENGERS SYNDROME (OMIM:212350)
Gene: AGK
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: SENGERS SYNDROME (OMIM:212350)
Gene: AGK
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: SENGERS SYNDROME (OMIM:212350)
Gene: AGK
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: SENGERS SYNDROME (OMIM:212350)
Gene: AGK
Phenotype: Easy fatigability (HP:0003388)
Associated disease: SENGERS SYNDROME (OMIM:212350)
Gene: AGK
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: SENGERS SYNDROME (OMIM:212350)
Gene: AGK
Phenotype: Decreased activity of mitochondrial complex III (HP:0011924)
Associated disease: SENGERS SYNDROME (OMIM:212350)
Gene: AGK
Phenotype: Decreased activity of mitochondrial complex I (HP:0011923)
Associated disease: SENGERS SYNDROME (OMIM:212350)
Gene: AGK
Phenotype: Premature ovarian insufficiency (HP:0008209)
Associated disease: SENGERS SYNDROME (OMIM:212350)
Gene: AGK
Phenotype: Infantile onset (HP:0003593)
Associated disease: SENGERS SYNDROME (OMIM:212350)
Gene: AGK
Phenotype: Congenital onset (HP:0003577)
Associated disease: CATARACT 38 (OMIM:614691)
Gene: AGK
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: SENGERS SYNDROME (OMIM:212350)
Gene: AGK
Phenotype: 3-Methylglutaconic aciduria (HP:0003535)
Associated disease: SENGERS SYNDROME (OMIM:212350)
Gene: AGK
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: SENGERS SYNDROME (OMIM:212350)
Gene: AGK
Phenotype: Neonatal onset (HP:0003623)
Associated disease: SENGERS SYNDROME (OMIM:212350)
Gene: AGK
Phenotype: Exercise-induced lactic acidemia (HP:0004901)
Associated disease: SENGERS SYNDROME (OMIM:212350)
Gene: AGK
Phenotype: Nystagmus (HP:0000639)
Associated disease: SENGERS SYNDROME (OMIM:212350)
Gene: AGK
Phenotype: Nystagmus (HP:0000639)
Associated disease: Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome; Sengers syndrome (ORPHA:1369)
Gene: AGK
Phenotype: Depletion of mitochondrial DNA in muscle tissue (HP:0009141)
Associated disease: SENGERS SYNDROME (OMIM:212350)
Gene: AGK
Phenotype: Myopathy (HP:0003198)
Associated disease: Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome; Sengers syndrome (ORPHA:1369)
Gene: AGK
Phenotype: Myopathy (HP:0003198)
Associated disease: SENGERS SYNDROME (OMIM:212350)
Gene: AGK
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome; Sengers syndrome (ORPHA:1369)
Gene: AGK
Phenotype: Lactic acidosis (HP:0003128)
Associated disease: SENGERS SYNDROME (OMIM:212350)
Gene: AGK
Phenotype: Osteopenia (HP:0000938)
Associated disease: SENGERS SYNDROME (OMIM:212350)
Gene: AGK
Phenotype: Growth delay (HP:0001510)
Associated disease: SENGERS SYNDROME (OMIM:212350)
Gene: AGK
Phenotype: Fatigue (HP:0012378)
Associated disease: SENGERS SYNDROME (OMIM:212350)
Gene: AGK
Phenotype: Cardiac arrest (HP:0001695)
Associated disease: SENGERS SYNDROME (OMIM:212350)
Gene: AGK
Phenotype: Sudden cardiac death (HP:0001645)
Associated disease: SENGERS SYNDROME (OMIM:212350)
Gene: AGK
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome; Sengers syndrome (ORPHA:1369)
Gene: AGK
Phenotype: Hypertrophic cardiomyopathy (HP:0001639)
Associated disease: SENGERS SYNDROME (OMIM:212350)
Gene: AGK
Phenotype: Strabismus (HP:0000486)
Associated disease: SENGERS SYNDROME (OMIM:212350)
Gene: AGK
Phenotype: Strabismus (HP:0000486)
Associated disease: Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome; Sengers syndrome (ORPHA:1369)
Gene: AGK
Phenotype: Cataract (HP:0000518)
Associated disease: SENGERS SYNDROME (OMIM:212350)
Gene: AGK
Phenotype: Cataract (HP:0000518)
Associated disease: Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome; Sengers syndrome (ORPHA:1369)
Gene: AGK
Phenotype: Developmental cataract (HP:0000519)
Associated disease: SENGERS SYNDROME (OMIM:212350)
Gene: AGK
Phenotype: Developmental cataract (HP:0000519)
Associated disease: CATARACT 38 (OMIM:614691)
Gene: AGK
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome; Sengers syndrome (ORPHA:1369)
Gene: AGK
Phenotype: Glaucoma (HP:0000501)
Associated disease: Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome; Sengers syndrome (ORPHA:1369)
Gene: AGK
Phenotype: Glaucoma (HP:0000501)
Associated disease: SENGERS SYNDROME (OMIM:212350)
Gene: AGK
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: SENGERS SYNDROME (OMIM:212350)
Gene: AGK
Phenotype: Myopia (HP:0000545)
Associated disease: SENGERS SYNDROME (OMIM:212350)
Gene: AGK
Phenotype: Myopia (HP:0000545)
Associated disease: Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome; Sengers syndrome (ORPHA:1369)
Gene: CDK5RAP2
Phenotype: Small cerebral cortex (HP:0002472)
Associated disease: MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:604804)
Gene: CDK5RAP2
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CDK5RAP2
Phenotype: Simplified gyral pattern (HP:0009879)
Associated disease: MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:604804)
Gene: CDK5RAP2
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CDK5RAP2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:604804)
Gene: CDK5RAP2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CDK5RAP2
Phenotype: Hypoplasia of the frontal lobes (HP:0007333)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CDK5RAP2
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CDK5RAP2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CDK5RAP2
Phenotype: Partial agenesis of the corpus callosum (HP:0001338)
Associated disease: MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:604804)
Gene: CDK5RAP2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:604804)
Gene: CDK5RAP2
Phenotype: Pachygyria (HP:0001302)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CDK5RAP2
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CDK5RAP2
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CDK5RAP2
Phenotype: Congenital onset (HP:0003577)
Associated disease: MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:604804)
Gene: CDK5RAP2
Phenotype: Gray matter heterotopia (HP:0002282)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CDK5RAP2
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:604804)
Gene: CDK5RAP2
Phenotype: Widely spaced teeth (HP:0000687)
Associated disease: MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:604804)
Gene: CDK5RAP2
Phenotype: Short stature (HP:0004322)
Associated disease: MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:604804)
Gene: CDK5RAP2
Phenotype: Short stature (HP:0004322)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CDK5RAP2
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:604804)
Gene: CDK5RAP2
Phenotype: Abnormal cortical bone morphology (HP:0003103)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CDK5RAP2
Phenotype: Microcephaly (HP:0000252)
Associated disease: MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:604804)
Gene: CDK5RAP2
Phenotype: Microcephaly (HP:0000252)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CDK5RAP2
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CDK5RAP2
Phenotype: Growth delay (HP:0001510)
Associated disease: MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:604804)
Gene: CDK5RAP2
Phenotype: Growth delay (HP:0001510)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CDK5RAP2
Phenotype: Sloping forehead (HP:0000340)
Associated disease: MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:604804)
Gene: CDK5RAP2
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: CDK5RAP2
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:604804)
Gene: CDK5RAP2
Phenotype: Prominent nose (HP:0000448)
Associated disease: MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:604804)
Gene: CDK5RAP2
Phenotype: Mixed hearing impairment (HP:0000410)
Associated disease: MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:604804)
Gene: CDK5RAP2
Phenotype: Proptosis (HP:0000520)
Associated disease: MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:604804)
Gene: CDK5RAP2
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Microcephalia vera; MCPH; Microcephaly vera; Autosomal recessive primary microcephaly; True microcephaly (ORPHA:2512)
Gene: IFT122
Phenotype: Brachydactyly (HP:0001156)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT122
Phenotype: Brachydactyly (HP:0001156)
Associated disease: CRANIOECTODERMAL DYSPLASIA 1 (OMIM:218330)
Gene: IFT122
Phenotype: Stage 5 chronic kidney disease (HP:0003774)
Associated disease: CRANIOECTODERMAL DYSPLASIA 1 (OMIM:218330)
Gene: IFT122
Phenotype: Broad distal phalanges of all fingers (HP:0009880)
Associated disease: CRANIOECTODERMAL DYSPLASIA 1 (OMIM:218330)
Gene: IFT122
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT122
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: CRANIOECTODERMAL DYSPLASIA 1 (OMIM:218330)
Gene: IFT122
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT122
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT122
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT122
Phenotype: Intellectual disability (HP:0001249)
Associated disease: CRANIOECTODERMAL DYSPLASIA 1 (OMIM:218330)
Gene: IFT122
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT122
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT122
Phenotype: Abnormal fingernail morphology (HP:0001231)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT122
Phenotype: Finger syndactyly (HP:0006101)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT122
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT122
Phenotype: Hepatic failure (HP:0001399)
Associated disease: CRANIOECTODERMAL DYSPLASIA 1 (OMIM:218330)
Gene: IFT122
Phenotype: Hepatic fibrosis (HP:0001395)
Associated disease: CRANIOECTODERMAL DYSPLASIA 1 (OMIM:218330)
Gene: IFT122
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT122
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT122
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: CRANIOECTODERMAL DYSPLASIA 1 (OMIM:218330)
Gene: IFT122
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: CRANIOECTODERMAL DYSPLASIA 1 (OMIM:218330)
Gene: IFT122
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: CED; Sensenbrenner syndrome; Cranioectodermal dysplasia (ORPHA:1515)
Gene: IFT122
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT122
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT122
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT122
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: IFT122
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT122
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CRANIOECTODERMAL DYSPLASIA 1 (OMIM:218330)
Gene: IFT122
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: IFT122
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)