TaoMedAI/RareMedData huggingface dataset:
Gene: RBM10
Phenotype: Scoliosis (HP:0002650)
Associated disease: TARP syndrome; Pierre Robin syndrome-congenital heart defect-talipes syndrome; Pierre Robin sequence-congenital heart defect-talipes syndrome; Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome (ORPHA:2886)
Gene: RBM10
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: TARP SYNDROME (OMIM:311900)
Gene: RBM10
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: TARP syndrome; Pierre Robin syndrome-congenital heart defect-talipes syndrome; Pierre Robin sequence-congenital heart defect-talipes syndrome; Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome (ORPHA:2886)
Gene: RBM10
Phenotype: Tongue nodules (HP:0000199)
Associated disease: TARP syndrome; Pierre Robin syndrome-congenital heart defect-talipes syndrome; Pierre Robin sequence-congenital heart defect-talipes syndrome; Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome (ORPHA:2886)
Gene: RBM10
Phenotype: Tongue nodules (HP:0000199)
Associated disease: TARP SYNDROME (OMIM:311900)
Gene: RBM10
Phenotype: Glossoptosis (HP:0000162)
Associated disease: TARP syndrome; Pierre Robin syndrome-congenital heart defect-talipes syndrome; Pierre Robin sequence-congenital heart defect-talipes syndrome; Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome (ORPHA:2886)
Gene: RBM10
Phenotype: Glossoptosis (HP:0000162)
Associated disease: TARP SYNDROME (OMIM:311900)
Gene: RBM10
Phenotype: Cleft palate (HP:0000175)
Associated disease: TARP SYNDROME (OMIM:311900)
Gene: RBM10
Phenotype: Cleft palate (HP:0000175)
Associated disease: TARP syndrome; Pierre Robin syndrome-congenital heart defect-talipes syndrome; Pierre Robin sequence-congenital heart defect-talipes syndrome; Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome (ORPHA:2886)
Gene: RBM10
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: TARP SYNDROME (OMIM:311900)
Gene: RBM10
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: TARP syndrome; Pierre Robin syndrome-congenital heart defect-talipes syndrome; Pierre Robin sequence-congenital heart defect-talipes syndrome; Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome (ORPHA:2886)
Gene: RBM10
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: TARP SYNDROME (OMIM:311900)
Gene: RBM10
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: TARP syndrome; Pierre Robin syndrome-congenital heart defect-talipes syndrome; Pierre Robin sequence-congenital heart defect-talipes syndrome; Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome (ORPHA:2886)
Gene: RBM10
Phenotype: Broad-based gait (HP:0002136)
Associated disease: TARP syndrome; Pierre Robin syndrome-congenital heart defect-talipes syndrome; Pierre Robin sequence-congenital heart defect-talipes syndrome; Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome (ORPHA:2886)
Gene: RBM10
Phenotype: Apnea (HP:0002104)
Associated disease: TARP syndrome; Pierre Robin syndrome-congenital heart defect-talipes syndrome; Pierre Robin sequence-congenital heart defect-talipes syndrome; Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome (ORPHA:2886)
Gene: RBM10
Phenotype: Meckel diverticulum (HP:0002245)
Associated disease: TARP SYNDROME (OMIM:311900)
Gene: RBM10
Phenotype: Abnormal duodenum morphology (HP:0002246)
Associated disease: TARP syndrome; Pierre Robin syndrome-congenital heart defect-talipes syndrome; Pierre Robin sequence-congenital heart defect-talipes syndrome; Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome (ORPHA:2886)
Gene: RBM10
Phenotype: Congenital onset (HP:0003577)
Associated disease: TARP SYNDROME (OMIM:311900)
Gene: RBM10
Phenotype: Abnormal antihelix morphology (HP:0009738)
Associated disease: TARP syndrome; Pierre Robin syndrome-congenital heart defect-talipes syndrome; Pierre Robin sequence-congenital heart defect-talipes syndrome; Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome (ORPHA:2886)
Gene: RBM10
Phenotype: Abnormal hair pattern (HP:0010720)
Associated disease: TARP syndrome; Pierre Robin syndrome-congenital heart defect-talipes syndrome; Pierre Robin sequence-congenital heart defect-talipes syndrome; Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome (ORPHA:2886)
Gene: RBM10
Phenotype: Athetosis (HP:0002305)
Associated disease: TARP SYNDROME (OMIM:311900)
Gene: RBM10
Phenotype: Alveolar ridge overgrowth (HP:0009085)
Associated disease: TARP syndrome; Pierre Robin syndrome-congenital heart defect-talipes syndrome; Pierre Robin sequence-congenital heart defect-talipes syndrome; Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome (ORPHA:2886)
Gene: RBM10
Phenotype: Optic atrophy (HP:0000648)
Associated disease: TARP SYNDROME (OMIM:311900)
Gene: RBM10
Phenotype: Optic atrophy (HP:0000648)
Associated disease: TARP syndrome; Pierre Robin syndrome-congenital heart defect-talipes syndrome; Pierre Robin sequence-congenital heart defect-talipes syndrome; Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome (ORPHA:2886)
Gene: RBM10
Phenotype: Extramedullary hematopoiesis (HP:0001978)
Associated disease: TARP syndrome; Pierre Robin syndrome-congenital heart defect-talipes syndrome; Pierre Robin sequence-congenital heart defect-talipes syndrome; Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome (ORPHA:2886)
Gene: RBM10
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: TARP SYNDROME (OMIM:311900)
Gene: RBM10
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: TARP syndrome; Pierre Robin syndrome-congenital heart defect-talipes syndrome; Pierre Robin sequence-congenital heart defect-talipes syndrome; Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome (ORPHA:2886)
Gene: RBM10
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: TARP SYNDROME (OMIM:311900)
Gene: RBM10
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: TARP syndrome; Pierre Robin syndrome-congenital heart defect-talipes syndrome; Pierre Robin sequence-congenital heart defect-talipes syndrome; Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome (ORPHA:2886)
Gene: RBM10
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: TARP SYNDROME (OMIM:311900)
Gene: RBM10
Phenotype: Athetoid cerebral palsy (HP:0011445)
Associated disease: TARP syndrome; Pierre Robin syndrome-congenital heart defect-talipes syndrome; Pierre Robin sequence-congenital heart defect-talipes syndrome; Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome (ORPHA:2886)
Gene: RBM10
Phenotype: Subdural hemorrhage (HP:0100309)
Associated disease: TARP SYNDROME (OMIM:311900)
Gene: RBM10
Phenotype: Widely patent fontanelles and sutures (HP:0004492)
Associated disease: TARP syndrome; Pierre Robin syndrome-congenital heart defect-talipes syndrome; Pierre Robin sequence-congenital heart defect-talipes syndrome; Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome (ORPHA:2886)
Gene: RBM10
Phenotype: Short sternum (HP:0000879)
Associated disease: TARP syndrome; Pierre Robin syndrome-congenital heart defect-talipes syndrome; Pierre Robin sequence-congenital heart defect-talipes syndrome; Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome (ORPHA:2886)
Gene: RBM10
Phenotype: Short sternum (HP:0000879)
Associated disease: TARP SYNDROME (OMIM:311900)
Gene: RBM10
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: TARP syndrome; Pierre Robin syndrome-congenital heart defect-talipes syndrome; Pierre Robin sequence-congenital heart defect-talipes syndrome; Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome (ORPHA:2886)
Gene: RBM10
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: TARP SYNDROME (OMIM:311900)
Gene: RBM10
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: TARP SYNDROME (OMIM:311900)
Gene: RBM10
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: TARP syndrome; Pierre Robin syndrome-congenital heart defect-talipes syndrome; Pierre Robin sequence-congenital heart defect-talipes syndrome; Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome (ORPHA:2886)
Gene: RBM10
Phenotype: Cyanosis (HP:0000961)
Associated disease: TARP syndrome; Pierre Robin syndrome-congenital heart defect-talipes syndrome; Pierre Robin sequence-congenital heart defect-talipes syndrome; Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome (ORPHA:2886)
Gene: RBM10
Phenotype: Hypoplasia of proximal radius (HP:0006434)
Associated disease: TARP syndrome; Pierre Robin syndrome-congenital heart defect-talipes syndrome; Pierre Robin sequence-congenital heart defect-talipes syndrome; Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome (ORPHA:2886)
Gene: RBM10
Phenotype: Clinodactyly (HP:0030084)
Associated disease: TARP SYNDROME (OMIM:311900)
Gene: RBM10
Phenotype: Clinodactyly (HP:0030084)
Associated disease: TARP syndrome; Pierre Robin syndrome-congenital heart defect-talipes syndrome; Pierre Robin sequence-congenital heart defect-talipes syndrome; Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome (ORPHA:2886)
Gene: RBM10
Phenotype: Large fontanelles (HP:0000239)
Associated disease: TARP syndrome; Pierre Robin syndrome-congenital heart defect-talipes syndrome; Pierre Robin sequence-congenital heart defect-talipes syndrome; Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome (ORPHA:2886)
Gene: RBM10
Phenotype: Large fontanelles (HP:0000239)
Associated disease: TARP SYNDROME (OMIM:311900)
Gene: RBM10
Phenotype: High palate (HP:0000218)
Associated disease: TARP SYNDROME (OMIM:311900)
Gene: RBM10
Phenotype: Oligohydramnios (HP:0001562)
Associated disease: TARP SYNDROME (OMIM:311900)
Gene: RBM10
Phenotype: Pierre-Robin sequence (HP:0000201)
Associated disease: TARP syndrome; Pierre Robin syndrome-congenital heart defect-talipes syndrome; Pierre Robin sequence-congenital heart defect-talipes syndrome; Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome (ORPHA:2886)
Gene: RBM10
Phenotype: Failure to thrive (HP:0001508)
Associated disease: TARP SYNDROME (OMIM:311900)
Gene: RBM10
Phenotype: Failure to thrive (HP:0001508)
Associated disease: TARP syndrome; Pierre Robin syndrome-congenital heart defect-talipes syndrome; Pierre Robin sequence-congenital heart defect-talipes syndrome; Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome (ORPHA:2886)
Gene: RBM10
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: TARP SYNDROME (OMIM:311900)
Gene: RBM10
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: TARP syndrome; Pierre Robin syndrome-congenital heart defect-talipes syndrome; Pierre Robin sequence-congenital heart defect-talipes syndrome; Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome (ORPHA:2886)
Gene: RBM10
Phenotype: Small earlobe (HP:0000385)
Associated disease: TARP syndrome; Pierre Robin syndrome-congenital heart defect-talipes syndrome; Pierre Robin sequence-congenital heart defect-talipes syndrome; Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome (ORPHA:2886)
Gene: RBM10
Phenotype: Prominent antihelix (HP:0000395)
Associated disease: TARP syndrome; Pierre Robin syndrome-congenital heart defect-talipes syndrome; Pierre Robin sequence-congenital heart defect-talipes syndrome; Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome (ORPHA:2886)
Gene: RBM10
Phenotype: Prominent antihelix (HP:0000395)
Associated disease: TARP SYNDROME (OMIM:311900)
Gene: RBM10
Phenotype: Hearing impairment (HP:0000365)
Associated disease: TARP syndrome; Pierre Robin syndrome-congenital heart defect-talipes syndrome; Pierre Robin sequence-congenital heart defect-talipes syndrome; Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome (ORPHA:2886)
Gene: RBM10
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: TARP SYNDROME (OMIM:311900)
Gene: RBM10
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: TARP syndrome; Pierre Robin syndrome-congenital heart defect-talipes syndrome; Pierre Robin sequence-congenital heart defect-talipes syndrome; Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome (ORPHA:2886)
Gene: RBM10
Phenotype: Low-set ears (HP:0000369)
Associated disease: TARP SYNDROME (OMIM:311900)
Gene: RBM10
Phenotype: Sloping forehead (HP:0000340)
Associated disease: TARP syndrome; Pierre Robin syndrome-congenital heart defect-talipes syndrome; Pierre Robin sequence-congenital heart defect-talipes syndrome; Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome (ORPHA:2886)
Gene: RBM10
Phenotype: Micrognathia (HP:0000347)
Associated disease: TARP SYNDROME (OMIM:311900)
Gene: RBM10
Phenotype: Micrognathia (HP:0000347)
Associated disease: TARP syndrome; Pierre Robin syndrome-congenital heart defect-talipes syndrome; Pierre Robin sequence-congenital heart defect-talipes syndrome; Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome (ORPHA:2886)
Gene: RBM10
Phenotype: Hypertelorism (HP:0000316)
Associated disease: TARP SYNDROME (OMIM:311900)
Gene: RBM10
Phenotype: Hypertelorism (HP:0000316)
Associated disease: TARP syndrome; Pierre Robin syndrome-congenital heart defect-talipes syndrome; Pierre Robin sequence-congenital heart defect-talipes syndrome; Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome (ORPHA:2886)
Gene: RBM10
Phenotype: Hypoplasia of the radius (HP:0002984)
Associated disease: TARP SYNDROME (OMIM:311900)
Gene: RBM10
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TARP SYNDROME (OMIM:311900)
Gene: RBM10
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: TARP syndrome; Pierre Robin syndrome-congenital heart defect-talipes syndrome; Pierre Robin sequence-congenital heart defect-talipes syndrome; Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome (ORPHA:2886)
Gene: RBM10
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: TARP SYNDROME (OMIM:311900)
Gene: RBM10
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: TARP syndrome; Pierre Robin syndrome-congenital heart defect-talipes syndrome; Pierre Robin sequence-congenital heart defect-talipes syndrome; Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome (ORPHA:2886)
Gene: RBM10
Phenotype: Persistent left superior vena cava (HP:0005301)
Associated disease: TARP syndrome; Pierre Robin syndrome-congenital heart defect-talipes syndrome; Pierre Robin sequence-congenital heart defect-talipes syndrome; Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome (ORPHA:2886)
Gene: RBM10
Phenotype: Anteverted nares (HP:0000463)
Associated disease: TARP SYNDROME (OMIM:311900)
Gene: RBM10
Phenotype: Anteverted nares (HP:0000463)
Associated disease: TARP syndrome; Pierre Robin syndrome-congenital heart defect-talipes syndrome; Pierre Robin sequence-congenital heart defect-talipes syndrome; Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome (ORPHA:2886)
Gene: RBM10
Phenotype: Premature rupture of membranes (HP:0001788)
Associated disease: TARP SYNDROME (OMIM:311900)
Gene: RBM10
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: TARP SYNDROME (OMIM:311900)
Gene: RBM10
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: TARP SYNDROME (OMIM:311900)
Gene: RBM10
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: TARP syndrome; Pierre Robin syndrome-congenital heart defect-talipes syndrome; Pierre Robin sequence-congenital heart defect-talipes syndrome; Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome (ORPHA:2886)
Gene: RBM10
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: TARP SYNDROME (OMIM:311900)
Gene: RBM10
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: TARP syndrome; Pierre Robin syndrome-congenital heart defect-talipes syndrome; Pierre Robin sequence-congenital heart defect-talipes syndrome; Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome (ORPHA:2886)
Gene: RBM10
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: TARP syndrome; Pierre Robin syndrome-congenital heart defect-talipes syndrome; Pierre Robin sequence-congenital heart defect-talipes syndrome; Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome (ORPHA:2886)
Gene: RBM10
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: TARP SYNDROME (OMIM:311900)
Gene: RBM10
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: TARP syndrome; Pierre Robin syndrome-congenital heart defect-talipes syndrome; Pierre Robin sequence-congenital heart defect-talipes syndrome; Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome (ORPHA:2886)
Gene: RBM10
Phenotype: Myopia (HP:0000545)
Associated disease: TARP syndrome; Pierre Robin syndrome-congenital heart defect-talipes syndrome; Pierre Robin sequence-congenital heart defect-talipes syndrome; Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome (ORPHA:2886)
Gene: KDM5C
Phenotype: Large hands (HP:0001176)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE (OMIM:300534)
Gene: KDM5C
Phenotype: Tapered finger (HP:0001182)
Associated disease: KDM5C-related syndromic X-linked intellectual disability (ORPHA:85279)
Gene: KDM5C
Phenotype: Brachydactyly (HP:0001156)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE (OMIM:300534)
Gene: KDM5C
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: KDM5C-related syndromic X-linked intellectual disability (ORPHA:85279)
Gene: KDM5C
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE (OMIM:300534)
Gene: KDM5C
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE (OMIM:300534)
Gene: KDM5C
Phenotype: Motor delay (HP:0001270)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE (OMIM:300534)
Gene: KDM5C
Phenotype: Seizure (HP:0001250)
Associated disease: KDM5C-related syndromic X-linked intellectual disability (ORPHA:85279)
Gene: KDM5C
Phenotype: Seizure (HP:0001250)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE (OMIM:300534)
Gene: KDM5C
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE (OMIM:300534)
Gene: KDM5C
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE (OMIM:300534)
Gene: KDM5C
Phenotype: Spasticity (HP:0001257)
Associated disease: KDM5C-related syndromic X-linked intellectual disability (ORPHA:85279)
Gene: KDM5C
Phenotype: Spasticity (HP:0001257)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE (OMIM:300534)
Gene: KDM5C
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE (OMIM:300534)
Gene: KDM5C
Phenotype: Decreased testicular size (HP:0008734)
Associated disease: KDM5C-related syndromic X-linked intellectual disability (ORPHA:85279)
Gene: KDM5C
Phenotype: Flexion contracture (HP:0001371)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE (OMIM:300534)
Gene: KDM5C
Phenotype: Micropenis (HP:0000054)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE (OMIM:300534)
Gene: KDM5C
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: KDM5C-related syndromic X-linked intellectual disability (ORPHA:85279)
Gene: KDM5C
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE (OMIM:300534)
Gene: KDM5C
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: KDM5C-related syndromic X-linked intellectual disability (ORPHA:85279)
Gene: KDM5C
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE (OMIM:300534)
Gene: KDM5C
Phenotype: Multiple cafe-au-lait spots (HP:0007565)
Associated disease: KDM5C-related syndromic X-linked intellectual disability (ORPHA:85279)
Gene: KDM5C
Phenotype: Distal lower limb amyotrophy (HP:0008944)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE (OMIM:300534)
Gene: KDM5C
Phenotype: Recurrent upper respiratory tract infections (HP:0002788)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE (OMIM:300534)
Gene: KDM5C
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE (OMIM:300534)
Gene: KDM5C
Phenotype: Talipes calcaneovarus (HP:0008124)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE (OMIM:300534)
Gene: KDM5C
Phenotype: Babinski sign (HP:0003487)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE (OMIM:300534)
Gene: KDM5C
Phenotype: Camptodactyly of finger (HP:0100490)
Associated disease: KDM5C-related syndromic X-linked intellectual disability (ORPHA:85279)
Gene: KDM5C
Phenotype: Patchy alopecia (HP:0002232)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE (OMIM:300534)
Gene: KDM5C
Phenotype: Patchy alopecia (HP:0002232)
Associated disease: KDM5C-related syndromic X-linked intellectual disability (ORPHA:85279)
Gene: KDM5C
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE (OMIM:300534)
Gene: KDM5C
Phenotype: Progressive spastic paraplegia (HP:0007020)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE (OMIM:300534)
Gene: KDM5C
Phenotype: Pain insensitivity (HP:0007021)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE (OMIM:300534)
Gene: KDM5C
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE (OMIM:300534)
Gene: KDM5C
Phenotype: Shuffling gait (HP:0002362)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE (OMIM:300534)
Gene: KDM5C
Phenotype: Cholelithiasis (HP:0001081)
Associated disease: MENTAL RETARDATION, X-LINKED, SYNDROMIC, CLAES-JENSEN TYPE (OMIM:300534)