TaoMedAI/RareMedData huggingface dataset:
Gene: CLTCL1
Phenotype: Keratitis (HP:0000491)
Associated disease: Congenital insensitivity to pain with severe intellectual disability; Congenital insensitivity to pain with severe non-progressive cognitive delay; Congenital analgesia with severe intellectual disability; Congenital absence of pain with severe intellectual disability; Congenital insensitivity to pain with preserved temperature sensation (ORPHA:453510)
Gene: CLTCL1
Phenotype: Talipes equinovalgus (HP:0001772)
Associated disease: Congenital insensitivity to pain with severe intellectual disability; Congenital insensitivity to pain with severe non-progressive cognitive delay; Congenital analgesia with severe intellectual disability; Congenital absence of pain with severe intellectual disability; Congenital insensitivity to pain with preserved temperature sensation (ORPHA:453510)
Gene: CLTCL1
Phenotype: Prominent nose (HP:0000448)
Associated disease: Congenital insensitivity to pain with severe intellectual disability; Congenital insensitivity to pain with severe non-progressive cognitive delay; Congenital analgesia with severe intellectual disability; Congenital absence of pain with severe intellectual disability; Congenital insensitivity to pain with preserved temperature sensation (ORPHA:453510)
Gene: CLTCL1
Phenotype: Rocker bottom foot (HP:0001838)
Associated disease: Congenital insensitivity to pain with severe intellectual disability; Congenital insensitivity to pain with severe non-progressive cognitive delay; Congenital analgesia with severe intellectual disability; Congenital absence of pain with severe intellectual disability; Congenital insensitivity to pain with preserved temperature sensation (ORPHA:453510)
Gene: ESS2
Phenotype: Abnormality of the hand (HP:0001155)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: ESS2
Phenotype: Hypotonia (HP:0001252)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: ESS2
Phenotype: Intellectual disability (HP:0001249)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: ESS2
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: ESS2
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: ESS2
Phenotype: Specific learning disability (HP:0001328)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: ESS2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: ESS2
Phenotype: Right aortic arch with mirror image branching (HP:0002627)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: ESS2
Phenotype: Open mouth (HP:0000194)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: ESS2
Phenotype: Submucous cleft hard palate (HP:0000176)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: ESS2
Phenotype: Cleft palate (HP:0000175)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: ESS2
Phenotype: Recurrent infections (HP:0002719)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: ESS2
Phenotype: Abnormality of T cell physiology (HP:0011840)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: ESS2
Phenotype: Paranoia (HP:0011999)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: ESS2
Phenotype: Pulmonary artery atresia (HP:0004935)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: ESS2
Phenotype: Posterior embryotoxon (HP:0000627)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: ESS2
Phenotype: Short stature (HP:0004322)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: ESS2
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: ESS2
Phenotype: Emotional lability (HP:0000712)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: ESS2
Phenotype: Retinal vascular tortuosity (HP:0012841)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: ESS2
Phenotype: Hypoparathyroidism (HP:0000829)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: ESS2
Phenotype: Double aortic arch (HP:0011590)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: ESS2
Phenotype: Interrupted aortic arch (HP:0011611)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: ESS2
Phenotype: Narrow palpebral fissure (HP:0045025)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: ESS2
Phenotype: Retrognathia (HP:0000278)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: ESS2
Phenotype: Microcephaly (HP:0000252)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: ESS2
Phenotype: Velopharyngeal insufficiency (HP:0000220)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: ESS2
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: ESS2
Phenotype: Pierre-Robin sequence (HP:0000201)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: ESS2
Phenotype: Unilateral primary pulmonary dysgenesis (HP:0006549)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: ESS2
Phenotype: Hypernasal speech (HP:0001611)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: ESS2
Phenotype: Hypocalcemia (HP:0002901)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: ESS2
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: ESS2
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: ESS2
Phenotype: Bulbous nose (HP:0000414)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: ESS2
Phenotype: Underdeveloped nasal alae (HP:0000430)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: ESS2
Phenotype: Abnormality of the ear (HP:0000598)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: ESS2
Phenotype: Blepharophimosis (HP:0000581)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: ESS2
Phenotype: Talipes (HP:0001883)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: USP9X
Phenotype: Tapered finger (HP:0001182)
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: Tapered finger (HP:0001182)
Associated disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED (OMIM:300968)
Gene: USP9X
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED (OMIM:300968)
Gene: USP9X
Phenotype: Gait disturbance (HP:0001288)
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: Seizure (HP:0001250)
Associated disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED (OMIM:300968)
Gene: USP9X
Phenotype: Seizure (HP:0001250)
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: Hypotonia (HP:0001252)
Associated disease: MENTAL RETARDATION, X-LINKED 99 (OMIM:300919)
Gene: USP9X
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, X-LINKED 99 (OMIM:300919)
Gene: USP9X
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED (OMIM:300968)
Gene: USP9X
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, X-LINKED 99 (OMIM:300919)
Gene: USP9X
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED (OMIM:300968)
Gene: USP9X
Phenotype: Global developmental delay (HP:0001263)
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: Hypoplastic nipples (HP:0002557)
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: Slender finger (HP:0001238)
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: Cyst of the ductus choledochus (HP:0100890)
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: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
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: Abnormal cortical gyration (HP:0002536)
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: Abnormal cortical gyration (HP:0002536)
Associated disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED (OMIM:300968)
Gene: USP9X
Phenotype: Ectopic kidney (HP:0000086)
Associated disease: MENTAL RETARDATION, X-LINKED 99 (OMIM:300919)
Gene: USP9X
Phenotype: Congenital hip dislocation (HP:0001374)
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: Limitation of joint mobility (HP:0001376)
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 dysplasia (HP:0001385)
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 dysplasia (HP:0001385)
Associated disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED (OMIM:300968)
Gene: USP9X
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: MENTAL RETARDATION, X-LINKED 99 (OMIM:300919)
Gene: USP9X
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED (OMIM:300968)
Gene: USP9X
Phenotype: Joint hypermobility (HP:0001382)
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: Hypospadias (HP:0000047)
Associated disease: MENTAL RETARDATION, X-LINKED 99 (OMIM:300919)
Gene: USP9X
Phenotype: Depigmentation/hyperpigmentation of skin (HP:0007483)
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: Neoplasm (HP:0002664)
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: Dandy-Walker malformation (HP:0001305)
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: Dandy-Walker malformation (HP:0001305)
Associated disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED (OMIM:300968)
Gene: USP9X
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
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: Scoliosis (HP:0002650)
Associated disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED (OMIM:300968)
Gene: USP9X
Phenotype: Scoliosis (HP:0002650)
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: Cerebellar hypoplasia (HP:0001321)
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: Cerebellar hypoplasia (HP:0001321)
Associated disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED (OMIM:300968)
Gene: USP9X
Phenotype: Bifid uvula (HP:0000193)
Associated disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED (OMIM:300968)
Gene: USP9X
Phenotype: Abnormality of the dentition (HP:0000164)
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 dentition (HP:0000164)
Associated disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED (OMIM:300968)
Gene: USP9X
Phenotype: Cleft palate (HP:0000175)
Associated disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED (OMIM:300968)
Gene: USP9X
Phenotype: Cleft palate (HP:0000175)
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: Abnormal periodontium morphology (HP:0410026)
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: Floppy infant (HP:0008947)
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: Tracheomalacia (HP:0002779)
Associated disease: MENTAL RETARDATION, X-LINKED 99 (OMIM:300919)
Gene: USP9X
Phenotype: Abnormality of the genitourinary system (HP:0000119)
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: Hydronephrosis (HP:0000126)
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: Hydronephrosis (HP:0000126)
Associated disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED (OMIM:300968)
Gene: USP9X
Phenotype: X-linked dominant inheritance (HP:0001423)
Associated disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED (OMIM:300968)
Gene: USP9X
Phenotype: Renal dysplasia (HP:0000110)
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: Renal dysplasia (HP:0000110)
Associated disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED (OMIM:300968)
Gene: USP9X
Phenotype: X-linked recessive inheritance (HP:0001419)
Associated disease: MENTAL RETARDATION, X-LINKED 99 (OMIM:300919)
Gene: USP9X
Phenotype: Anal atresia (HP:0002023)
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: Anal atresia (HP:0002023)
Associated disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED (OMIM:300968)
Gene: USP9X
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: MENTAL RETARDATION, X-LINKED 99 (OMIM:300919)
Gene: USP9X
Phenotype: Respiratory distress (HP:0002098)
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: Respiratory distress (HP:0002098)
Associated disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED (OMIM:300968)
Gene: USP9X
Phenotype: 1-minute APGAR score of 1 (HP:0030928)
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: 5-minute APGAR score of 5 (HP:0030925)
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: Lower limb asymmetry (HP:0100559)
Associated disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED (OMIM:300968)
Gene: USP9X
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED (OMIM:300968)
Gene: USP9X
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
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: Patellar subluxation (HP:0010499)
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: Ventriculomegaly (HP:0002119)
Associated disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED (OMIM:300968)
Gene: USP9X
Phenotype: Ventriculomegaly (HP:0002119)
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: Dilated fourth ventricle (HP:0002198)
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: Curly hair (HP:0002212)
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: Recurrent respiratory infections (HP:0002205)
Associated disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED (OMIM:300968)
Gene: USP9X
Phenotype: Recurrent upper and lower respiratory tract infections (HP:0200117)
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: Feeding difficulties (HP:0011968)
Associated disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED (OMIM:300968)
Gene: USP9X
Phenotype: Feeding difficulties (HP:0011968)
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: Hypoplasia of the brainstem (HP:0002365)
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: Intellectual disability, moderate (HP:0002342)
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: Small hand (HP:0200055)
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: Small hand (HP:0200055)
Associated disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED (OMIM:300968)
Gene: USP9X
Phenotype: Abnormality of the abdominal wall (HP:0004298)
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: Hypotelorism (HP:0000601)
Associated disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED (OMIM:300968)
Gene: USP9X
Phenotype: Broad hallux (HP:0010055)
Associated disease: MENTAL RETARDATION, X-LINKED 99 (OMIM:300919)
Gene: USP9X
Phenotype: Tooth malposition (HP:0000692)
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: Broad thumb (HP:0011304)
Associated disease: MENTAL RETARDATION, X-LINKED 99 (OMIM:300919)
Gene: USP9X
Phenotype: Short stature (HP:0004322)
Associated disease: MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED (OMIM:300968)