TaoMedAI/RareMedData huggingface dataset:
Gene: USP9X
Phenotype: Short stature (HP:0004322)
Associated disease: X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females; X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability (ORPHA:480880)
Gene: USP9X
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females; X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability (ORPHA:480880)
Gene: USP9X
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED (OMIM:300968)
Gene: USP9X
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED (OMIM:300968)
Gene: USP9X
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: MENTAL RETARDATION, X-LINKED 99 (OMIM:300919)
Gene: USP9X
Phenotype: Autistic behavior (HP:0000729)
Associated disease: MENTAL RETARDATION, X-LINKED 99 (OMIM:300919)
Gene: USP9X
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: MENTAL RETARDATION, X-LINKED 99 (OMIM:300919)
Gene: USP9X
Phenotype: Hyperextensible thumb (HP:0005722)
Associated disease: X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females; X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability (ORPHA:480880)
Gene: USP9X
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: MENTAL RETARDATION, X-LINKED 99 (OMIM:300919)
Gene: USP9X
Phenotype: Unilateral breast hypoplasia (HP:0012813)
Associated disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED (OMIM:300968)
Gene: USP9X
Phenotype: Wide nasal base (HP:0012810)
Associated disease: X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females; X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability (ORPHA:480880)
Gene: USP9X
Phenotype: Delayed puberty (HP:0000823)
Associated disease: X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females; X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability (ORPHA:480880)
Gene: USP9X
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females; X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability (ORPHA:480880)
Gene: USP9X
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED (OMIM:300968)
Gene: USP9X
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females; X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability (ORPHA:480880)
Gene: USP9X
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED (OMIM:300968)
Gene: USP9X
Phenotype: Sacral dimple (HP:0000960)
Associated disease: X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females; X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability (ORPHA:480880)
Gene: USP9X
Phenotype: Sacral dimple (HP:0000960)
Associated disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED (OMIM:300968)
Gene: USP9X
Phenotype: Osteopenia (HP:0000938)
Associated disease: X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females; X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability (ORPHA:480880)
Gene: USP9X
Phenotype: Hip dislocation (HP:0002827)
Associated disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED (OMIM:300968)
Gene: USP9X
Phenotype: Brachycephaly (HP:0000248)
Associated disease: X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females; X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability (ORPHA:480880)
Gene: USP9X
Phenotype: Brachycephaly (HP:0000248)
Associated disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED (OMIM:300968)
Gene: USP9X
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females; X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability (ORPHA:480880)
Gene: USP9X
Phenotype: High palate (HP:0000218)
Associated disease: X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females; X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability (ORPHA:480880)
Gene: USP9X
Phenotype: Gingival overgrowth (HP:0000212)
Associated disease: X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females; X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability (ORPHA:480880)
Gene: USP9X
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MENTAL RETARDATION, X-LINKED 99 (OMIM:300919)
Gene: USP9X
Phenotype: Abnormal circulating thyroid hormone concentration (HP:0031508)
Associated disease: X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females; X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability (ORPHA:480880)
Gene: USP9X
Phenotype: Thoracolumbar scoliosis (HP:0002944)
Associated disease: X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females; X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability (ORPHA:480880)
Gene: USP9X
Phenotype: Abnormality of thyroid physiology (HP:0002926)
Associated disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED (OMIM:300968)
Gene: USP9X
Phenotype: Hearing impairment (HP:0000365)
Associated disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED (OMIM:300968)
Gene: USP9X
Phenotype: Hearing impairment (HP:0000365)
Associated disease: X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females; X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability (ORPHA:480880)
Gene: USP9X
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED (OMIM:300968)
Gene: USP9X
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females; X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability (ORPHA:480880)
Gene: USP9X
Phenotype: Low-set ears (HP:0000369)
Associated disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED (OMIM:300968)
Gene: USP9X
Phenotype: Low-set ears (HP:0000369)
Associated disease: X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females; X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability (ORPHA:480880)
Gene: USP9X
Phenotype: Narrow forehead (HP:0000341)
Associated disease: X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females; X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability (ORPHA:480880)
Gene: USP9X
Phenotype: Narrow forehead (HP:0000341)
Associated disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED (OMIM:300968)
Gene: USP9X
Phenotype: Long philtrum (HP:0000343)
Associated disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED (OMIM:300968)
Gene: USP9X
Phenotype: Long philtrum (HP:0000343)
Associated disease: X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females; X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability (ORPHA:480880)
Gene: USP9X
Phenotype: Smooth philtrum (HP:0000319)
Associated disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED (OMIM:300968)
Gene: USP9X
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED (OMIM:300968)
Gene: USP9X
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females; X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability (ORPHA:480880)
Gene: USP9X
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females; X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability (ORPHA:480880)
Gene: USP9X
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED (OMIM:300968)
Gene: USP9X
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females; X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability (ORPHA:480880)
Gene: USP9X
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED (OMIM:300968)
Gene: USP9X
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females; X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability (ORPHA:480880)
Gene: USP9X
Phenotype: Prominent nasolabial fold (HP:0005272)
Associated disease: X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females; X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability (ORPHA:480880)
Gene: USP9X
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED (OMIM:300968)
Gene: USP9X
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females; X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability (ORPHA:480880)
Gene: USP9X
Phenotype: Astigmatism (HP:0000483)
Associated disease: X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females; X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability (ORPHA:480880)
Gene: USP9X
Phenotype: Astigmatism (HP:0000483)
Associated disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED (OMIM:300968)
Gene: USP9X
Phenotype: Strabismus (HP:0000486)
Associated disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED (OMIM:300968)
Gene: USP9X
Phenotype: Strabismus (HP:0000486)
Associated disease: X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females; X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability (ORPHA:480880)
Gene: USP9X
Phenotype: Thick vermilion border (HP:0012471)
Associated disease: X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females; X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability (ORPHA:480880)
Gene: USP9X
Phenotype: Abnormality of the eye (HP:0000478)
Associated disease: X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females; X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability (ORPHA:480880)
Gene: USP9X
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females; X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability (ORPHA:480880)
Gene: USP9X
Phenotype: Brain atrophy (HP:0012444)
Associated disease: X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females; X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability (ORPHA:480880)
Gene: USP9X
Phenotype: Chronic constipation (HP:0012450)
Associated disease: MENTAL RETARDATION, X-LINKED 99 (OMIM:300919)
Gene: USP9X
Phenotype: Flared nostrils (HP:0000454)
Associated disease: X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females; X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability (ORPHA:480880)
Gene: USP9X
Phenotype: Short foot (HP:0001773)
Associated disease: X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females; X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability (ORPHA:480880)
Gene: USP9X
Phenotype: Short foot (HP:0001773)
Associated disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED (OMIM:300968)
Gene: USP9X
Phenotype: Pes planus (HP:0001763)
Associated disease: X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females; X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability (ORPHA:480880)
Gene: USP9X
Phenotype: Choanal atresia (HP:0000453)
Associated disease: X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females; X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability (ORPHA:480880)
Gene: USP9X
Phenotype: Choanal atresia (HP:0000453)
Associated disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED (OMIM:300968)
Gene: USP9X
Phenotype: Prominent nose (HP:0000448)
Associated disease: X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females; X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability (ORPHA:480880)
Gene: USP9X
Phenotype: Prominent nose (HP:0000448)
Associated disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED (OMIM:300968)
Gene: USP9X
Phenotype: Bulbous nose (HP:0000414)
Associated disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED (OMIM:300968)
Gene: USP9X
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED (OMIM:300968)
Gene: USP9X
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females; X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability (ORPHA:480880)
Gene: USP9X
Phenotype: Pes cavus (HP:0001761)
Associated disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED (OMIM:300968)
Gene: USP9X
Phenotype: Pes cavus (HP:0001761)
Associated disease: X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females; X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability (ORPHA:480880)
Gene: USP9X
Phenotype: Cataract (HP:0000518)
Associated disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED (OMIM:300968)
Gene: USP9X
Phenotype: Cataract (HP:0000518)
Associated disease: X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females; X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability (ORPHA:480880)
Gene: USP9X
Phenotype: Overlapping toe (HP:0001845)
Associated disease: X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females; X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability (ORPHA:480880)
Gene: USP9X
Phenotype: Hallux valgus (HP:0001822)
Associated disease: X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females; X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability (ORPHA:480880)
Gene: USP9X
Phenotype: Telecanthus (HP:0000506)
Associated disease: X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females; X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability (ORPHA:480880)
Gene: USP9X
Phenotype: Curved fingers (HP:0004095)
Associated disease: X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females; X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability (ORPHA:480880)
Gene: USP9X
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females; X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability (ORPHA:480880)
Gene: USP9X
Phenotype: Prominent forehead (HP:0011220)
Associated disease: MENTAL RETARDATION, X-LINKED 99 (OMIM:300919)
Gene: USP9X
Phenotype: Prominent forehead (HP:0011220)
Associated disease: X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females; X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability (ORPHA:480880)
Gene: USP9X
Phenotype: Prominent forehead (HP:0011220)
Associated disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED (OMIM:300968)
Gene: USP9X
Phenotype: Hypermetropia (HP:0000540)
Associated disease: X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females; X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability (ORPHA:480880)
Gene: USP9X
Phenotype: Hypermetropia (HP:0000540)
Associated disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED (OMIM:300968)
Gene: USP9X
Phenotype: Myopia (HP:0000545)
Associated disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED (OMIM:300968)
Gene: USP9X
Phenotype: Myopia (HP:0000545)
Associated disease: X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females; X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability (ORPHA:480880)
Gene: RBM10
Phenotype: Hand polydactyly (HP:0001161)
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: Underdeveloped supraorbital ridges (HP:0009891)
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: Underdeveloped supraorbital ridges (HP:0009891)
Associated disease: TARP SYNDROME (OMIM:311900)
Gene: RBM10
Phenotype: Microtia (HP:0008551)
Associated disease: TARP SYNDROME (OMIM:311900)
Gene: RBM10
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: TARP SYNDROME (OMIM:311900)
Gene: RBM10
Phenotype: Generalized hypotonia (HP:0001290)
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 corpus callosum morphology (HP:0001273)
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: Seizure (HP:0001250)
Associated disease: TARP SYNDROME (OMIM:311900)
Gene: RBM10
Phenotype: Seizure (HP:0001250)
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: Hypotonia (HP:0001252)
Associated disease: TARP SYNDROME (OMIM:311900)
Gene: RBM10
Phenotype: Intellectual disability (HP:0001249)
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: Global developmental delay (HP:0001263)
Associated disease: TARP SYNDROME (OMIM:311900)
Gene: RBM10
Phenotype: Global developmental delay (HP:0001263)
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: Finger syndactyly (HP:0006101)
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: Neonatal death (HP:0003811)
Associated disease: TARP SYNDROME (OMIM:311900)
Gene: RBM10
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: TARP SYNDROME (OMIM:311900)
Gene: RBM10
Phenotype: Horseshoe kidney (HP:0000085)
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: Hepatic failure (HP:0001399)
Associated disease: TARP SYNDROME (OMIM:311900)
Gene: RBM10
Phenotype: Cryptorchidism (HP:0000028)
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: Deep palmar crease (HP:0006191)
Associated disease: TARP SYNDROME (OMIM:311900)
Gene: RBM10
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: TARP SYNDROME (OMIM:311900)