TaoMedAI/RareMedData huggingface dataset:
Gene: ARHGAP24
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: ARHGAP24
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: ARHGAP24
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: ARHGAP24
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: ARHGAP24
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: ARHGAP24
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: ARHGAP24
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: ARHGAP24
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: ARHGAP24
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: ARHGAP24
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: ARHGAP24
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: ARHGAP24
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: DDX59
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: OROFACIODIGITAL SYNDROME V (OMIM:174300)
Gene: DDX59
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: Thurston syndrome; Polydactyly postaxial with median cleft of upper lip; Orofaciodigital syndrome, Thurston type; OFD5; Orofaciodigital syndrome type 5; Oral-facial-digital syndrome type 5 (ORPHA:2919)
Gene: DDX59
Phenotype: Bilateral tonic-clonic seizure with generalized onset (HP:0025190)
Associated disease: OROFACIODIGITAL SYNDROME V (OMIM:174300)
Gene: DDX59
Phenotype: Recurrent subcortical infarcts (HP:0007236)
Associated disease: OROFACIODIGITAL SYNDROME V (OMIM:174300)
Gene: DDX59
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: Thurston syndrome; Polydactyly postaxial with median cleft of upper lip; Orofaciodigital syndrome, Thurston type; OFD5; Orofaciodigital syndrome type 5; Oral-facial-digital syndrome type 5 (ORPHA:2919)
Gene: DDX59
Phenotype: Agenesis of corpus callosum (HP:0001274)
Associated disease: OROFACIODIGITAL SYNDROME V (OMIM:174300)
Gene: DDX59
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Thurston syndrome; Polydactyly postaxial with median cleft of upper lip; Orofaciodigital syndrome, Thurston type; OFD5; Orofaciodigital syndrome type 5; Oral-facial-digital syndrome type 5 (ORPHA:2919)
Gene: DDX59
Phenotype: Intellectual disability (HP:0001249)
Associated disease: OROFACIODIGITAL SYNDROME V (OMIM:174300)
Gene: DDX59
Phenotype: Global developmental delay (HP:0001263)
Associated disease: OROFACIODIGITAL SYNDROME V (OMIM:174300)
Gene: DDX59
Phenotype: Prominent fingertip pads (HP:0001212)
Associated disease: OROFACIODIGITAL SYNDROME V (OMIM:174300)
Gene: DDX59
Phenotype: Horseshoe kidney (HP:0000085)
Associated disease: OROFACIODIGITAL SYNDROME V (OMIM:174300)
Gene: DDX59
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: OROFACIODIGITAL SYNDROME V (OMIM:174300)
Gene: DDX59
Phenotype: Scoliosis (HP:0002650)
Associated disease: Thurston syndrome; Polydactyly postaxial with median cleft of upper lip; Orofaciodigital syndrome, Thurston type; OFD5; Orofaciodigital syndrome type 5; Oral-facial-digital syndrome type 5 (ORPHA:2919)
Gene: DDX59
Phenotype: Scoliosis (HP:0002650)
Associated disease: OROFACIODIGITAL SYNDROME V (OMIM:174300)
Gene: DDX59
Phenotype: Cleft soft palate (HP:0000185)
Associated disease: Thurston syndrome; Polydactyly postaxial with median cleft of upper lip; Orofaciodigital syndrome, Thurston type; OFD5; Orofaciodigital syndrome type 5; Oral-facial-digital syndrome type 5 (ORPHA:2919)
Gene: DDX59
Phenotype: Lobulated tongue (HP:0000180)
Associated disease: OROFACIODIGITAL SYNDROME V (OMIM:174300)
Gene: DDX59
Phenotype: Bifid uvula (HP:0000193)
Associated disease: OROFACIODIGITAL SYNDROME V (OMIM:174300)
Gene: DDX59
Phenotype: Bifid uvula (HP:0000193)
Associated disease: Thurston syndrome; Polydactyly postaxial with median cleft of upper lip; Orofaciodigital syndrome, Thurston type; OFD5; Orofaciodigital syndrome type 5; Oral-facial-digital syndrome type 5 (ORPHA:2919)
Gene: DDX59
Phenotype: Abnormal oral frenulum morphology (HP:0000190)
Associated disease: Thurston syndrome; Polydactyly postaxial with median cleft of upper lip; Orofaciodigital syndrome, Thurston type; OFD5; Orofaciodigital syndrome type 5; Oral-facial-digital syndrome type 5 (ORPHA:2919)
Gene: DDX59
Phenotype: Accessory oral frenulum (HP:0000191)
Associated disease: Thurston syndrome; Polydactyly postaxial with median cleft of upper lip; Orofaciodigital syndrome, Thurston type; OFD5; Orofaciodigital syndrome type 5; Oral-facial-digital syndrome type 5 (ORPHA:2919)
Gene: DDX59
Phenotype: Median cleft upper lip (HP:0000161)
Associated disease: Thurston syndrome; Polydactyly postaxial with median cleft of upper lip; Orofaciodigital syndrome, Thurston type; OFD5; Orofaciodigital syndrome type 5; Oral-facial-digital syndrome type 5 (ORPHA:2919)
Gene: DDX59
Phenotype: Median cleft upper lip (HP:0000161)
Associated disease: OROFACIODIGITAL SYNDROME V (OMIM:174300)
Gene: DDX59
Phenotype: Cleft palate (HP:0000175)
Associated disease: OROFACIODIGITAL SYNDROME V (OMIM:174300)
Gene: DDX59
Phenotype: Unilateral ptosis (HP:0007687)
Associated disease: OROFACIODIGITAL SYNDROME V (OMIM:174300)
Gene: DDX59
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Thurston syndrome; Polydactyly postaxial with median cleft of upper lip; Orofaciodigital syndrome, Thurston type; OFD5; Orofaciodigital syndrome type 5; Oral-facial-digital syndrome type 5 (ORPHA:2919)
Gene: DDX59
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: Thurston syndrome; Polydactyly postaxial with median cleft of upper lip; Orofaciodigital syndrome, Thurston type; OFD5; Orofaciodigital syndrome type 5; Oral-facial-digital syndrome type 5 (ORPHA:2919)
Gene: DDX59
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Thurston syndrome; Polydactyly postaxial with median cleft of upper lip; Orofaciodigital syndrome, Thurston type; OFD5; Orofaciodigital syndrome type 5; Oral-facial-digital syndrome type 5 (ORPHA:2919)
Gene: DDX59
Phenotype: Frontal bossing (HP:0002007)
Associated disease: OROFACIODIGITAL SYNDROME V (OMIM:174300)
Gene: DDX59
Phenotype: Hamartoma of tongue (HP:0011802)
Associated disease: OROFACIODIGITAL SYNDROME V (OMIM:174300)
Gene: DDX59
Phenotype: Ectopic accessory finger-like appendage (HP:0010441)
Associated disease: Thurston syndrome; Polydactyly postaxial with median cleft of upper lip; Orofaciodigital syndrome, Thurston type; OFD5; Orofaciodigital syndrome type 5; Oral-facial-digital syndrome type 5 (ORPHA:2919)
Gene: DDX59
Phenotype: Crossed fused renal ectopia (HP:0004736)
Associated disease: Thurston syndrome; Polydactyly postaxial with median cleft of upper lip; Orofaciodigital syndrome, Thurston type; OFD5; Orofaciodigital syndrome type 5; Oral-facial-digital syndrome type 5 (ORPHA:2919)
Gene: DDX59
Phenotype: Crossed fused renal ectopia (HP:0004736)
Associated disease: OROFACIODIGITAL SYNDROME V (OMIM:174300)
Gene: DDX59
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: OROFACIODIGITAL SYNDROME V (OMIM:174300)
Gene: DDX59
Phenotype: Congenital onset (HP:0003577)
Associated disease: OROFACIODIGITAL SYNDROME V (OMIM:174300)
Gene: DDX59
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: OROFACIODIGITAL SYNDROME V (OMIM:174300)
Gene: DDX59
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: Thurston syndrome; Polydactyly postaxial with median cleft of upper lip; Orofaciodigital syndrome, Thurston type; OFD5; Orofaciodigital syndrome type 5; Oral-facial-digital syndrome type 5 (ORPHA:2919)
Gene: DDX59
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: OROFACIODIGITAL SYNDROME V (OMIM:174300)
Gene: DDX59
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: OROFACIODIGITAL SYNDROME V (OMIM:174300)
Gene: DDX59
Phenotype: Esodeviation (HP:0020045)
Associated disease: OROFACIODIGITAL SYNDROME V (OMIM:174300)
Gene: DDX59
Phenotype: Absent cupid's bow (HP:0010800)
Associated disease: Thurston syndrome; Polydactyly postaxial with median cleft of upper lip; Orofaciodigital syndrome, Thurston type; OFD5; Orofaciodigital syndrome type 5; Oral-facial-digital syndrome type 5 (ORPHA:2919)
Gene: DDX59
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: OROFACIODIGITAL SYNDROME V (OMIM:174300)
Gene: DDX59
Phenotype: Dental malocclusion (HP:0000689)
Associated disease: OROFACIODIGITAL SYNDROME V (OMIM:174300)
Gene: DDX59
Phenotype: Hypodontia (HP:0000668)
Associated disease: OROFACIODIGITAL SYNDROME V (OMIM:174300)
Gene: DDX59
Phenotype: Hypodontia (HP:0000668)
Associated disease: Thurston syndrome; Polydactyly postaxial with median cleft of upper lip; Orofaciodigital syndrome, Thurston type; OFD5; Orofaciodigital syndrome type 5; Oral-facial-digital syndrome type 5 (ORPHA:2919)
Gene: DDX59
Phenotype: Unilateral cryptorchidism (HP:0012741)
Associated disease: OROFACIODIGITAL SYNDROME V (OMIM:174300)
Gene: DDX59
Phenotype: Agenesis of canine (HP:0012738)
Associated disease: Thurston syndrome; Polydactyly postaxial with median cleft of upper lip; Orofaciodigital syndrome, Thurston type; OFD5; Orofaciodigital syndrome type 5; Oral-facial-digital syndrome type 5 (ORPHA:2919)
Gene: DDX59
Phenotype: Overfriendliness (HP:0100025)
Associated disease: OROFACIODIGITAL SYNDROME V (OMIM:174300)
Gene: DDX59
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: OROFACIODIGITAL SYNDROME V (OMIM:174300)
Gene: DDX59
Phenotype: Non-midline cleft of the upper lip (HP:0100335)
Associated disease: Thurston syndrome; Polydactyly postaxial with median cleft of upper lip; Orofaciodigital syndrome, Thurston type; OFD5; Orofaciodigital syndrome type 5; Oral-facial-digital syndrome type 5 (ORPHA:2919)
Gene: DDX59
Phenotype: Bifid tongue (HP:0010297)
Associated disease: Thurston syndrome; Polydactyly postaxial with median cleft of upper lip; Orofaciodigital syndrome, Thurston type; OFD5; Orofaciodigital syndrome type 5; Oral-facial-digital syndrome type 5 (ORPHA:2919)
Gene: DDX59
Phenotype: Bifid tongue (HP:0010297)
Associated disease: OROFACIODIGITAL SYNDROME V (OMIM:174300)
Gene: DDX59
Phenotype: Ankyloglossia (HP:0010296)
Associated disease: OROFACIODIGITAL SYNDROME V (OMIM:174300)
Gene: DDX59
Phenotype: Postaxial polydactyly (HP:0100259)
Associated disease: OROFACIODIGITAL SYNDROME V (OMIM:174300)
Gene: DDX59
Phenotype: Postaxial polysyndactyly of foot (HP:0005817)
Associated disease: Thurston syndrome; Polydactyly postaxial with median cleft of upper lip; Orofaciodigital syndrome, Thurston type; OFD5; Orofaciodigital syndrome type 5; Oral-facial-digital syndrome type 5 (ORPHA:2919)
Gene: DDX59
Phenotype: Abnormality of the philtrum (HP:0000288)
Associated disease: Thurston syndrome; Polydactyly postaxial with median cleft of upper lip; Orofaciodigital syndrome, Thurston type; OFD5; Orofaciodigital syndrome type 5; Oral-facial-digital syndrome type 5 (ORPHA:2919)
Gene: DDX59
Phenotype: Microcephaly (HP:0000252)
Associated disease: Thurston syndrome; Polydactyly postaxial with median cleft of upper lip; Orofaciodigital syndrome, Thurston type; OFD5; Orofaciodigital syndrome type 5; Oral-facial-digital syndrome type 5 (ORPHA:2919)
Gene: DDX59
Phenotype: Microcephaly (HP:0000252)
Associated disease: OROFACIODIGITAL SYNDROME V (OMIM:174300)
Gene: DDX59
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: OROFACIODIGITAL SYNDROME V (OMIM:174300)
Gene: DDX59
Phenotype: High palate (HP:0000218)
Associated disease: OROFACIODIGITAL SYNDROME V (OMIM:174300)
Gene: DDX59
Phenotype: Supernumerary tooth (HP:0011069)
Associated disease: Thurston syndrome; Polydactyly postaxial with median cleft of upper lip; Orofaciodigital syndrome, Thurston type; OFD5; Orofaciodigital syndrome type 5; Oral-facial-digital syndrome type 5 (ORPHA:2919)
Gene: DDX59
Phenotype: Hearing impairment (HP:0000365)
Associated disease: OROFACIODIGITAL SYNDROME V (OMIM:174300)
Gene: DDX59
Phenotype: Low-set ears (HP:0000369)
Associated disease: OROFACIODIGITAL SYNDROME V (OMIM:174300)
Gene: DDX59
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Thurston syndrome; Polydactyly postaxial with median cleft of upper lip; Orofaciodigital syndrome, Thurston type; OFD5; Orofaciodigital syndrome type 5; Oral-facial-digital syndrome type 5 (ORPHA:2919)
Gene: DDX59
Phenotype: Hypertelorism (HP:0000316)
Associated disease: OROFACIODIGITAL SYNDROME V (OMIM:174300)
Gene: DDX59
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: OROFACIODIGITAL SYNDROME V (OMIM:174300)
Gene: DDX59
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: OROFACIODIGITAL SYNDROME V (OMIM:174300)
Gene: DDX59
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: OROFACIODIGITAL SYNDROME V (OMIM:174300)
Gene: DDX59
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: Thurston syndrome; Polydactyly postaxial with median cleft of upper lip; Orofaciodigital syndrome, Thurston type; OFD5; Orofaciodigital syndrome type 5; Oral-facial-digital syndrome type 5 (ORPHA:2919)
Gene: DDX59
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: OROFACIODIGITAL SYNDROME V (OMIM:174300)
Gene: DDX59
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: OROFACIODIGITAL SYNDROME V (OMIM:174300)
Gene: DDX59
Phenotype: Sandal gap (HP:0001852)
Associated disease: OROFACIODIGITAL SYNDROME V (OMIM:174300)
Gene: DDX59
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: Thurston syndrome; Polydactyly postaxial with median cleft of upper lip; Orofaciodigital syndrome, Thurston type; OFD5; Orofaciodigital syndrome type 5; Oral-facial-digital syndrome type 5 (ORPHA:2919)
Gene: DDX59
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: OROFACIODIGITAL SYNDROME V (OMIM:174300)
Gene: DDX59
Phenotype: Optic disc coloboma (HP:0000588)
Associated disease: OROFACIODIGITAL SYNDROME V (OMIM:174300)
Gene: DDX59
Phenotype: Thick eyebrow (HP:0000574)
Associated disease: OROFACIODIGITAL SYNDROME V (OMIM:174300)
Gene: PUS3
Phenotype: Poor speech (HP:0002465)
Associated disease: Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome (ORPHA:488627)
Gene: PUS3
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND GRAY SCLERAE (OMIM:617051)
Gene: PUS3
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome (ORPHA:488627)
Gene: PUS3
Phenotype: Blue nevus (HP:0100814)
Associated disease: Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome (ORPHA:488627)
Gene: PUS3
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome (ORPHA:488627)
Gene: PUS3
Phenotype: Seizure (HP:0001250)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND GRAY SCLERAE (OMIM:617051)
Gene: PUS3
Phenotype: Seizure (HP:0001250)
Associated disease: Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome (ORPHA:488627)
Gene: PUS3
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND GRAY SCLERAE (OMIM:617051)
Gene: PUS3
Phenotype: Dysarthria (HP:0001260)
Associated disease: Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome (ORPHA:488627)
Gene: PUS3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND GRAY SCLERAE (OMIM:617051)
Gene: PUS3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome (ORPHA:488627)
Gene: PUS3
Phenotype: Bilateral tonic-clonic seizure with focal onset (HP:0007334)
Associated disease: Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome (ORPHA:488627)
Gene: PUS3
Phenotype: Proteinuria (HP:0000093)
Associated disease: Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome (ORPHA:488627)
Gene: PUS3
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome (ORPHA:488627)
Gene: PUS3
Phenotype: Absent speech (HP:0001344)
Associated disease: Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome (ORPHA:488627)
Gene: PUS3
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND GRAY SCLERAE (OMIM:617051)
Gene: PUS3
Phenotype: Nephrotic syndrome (HP:0000100)
Associated disease: Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome (ORPHA:488627)
Gene: PUS3
Phenotype: Dysphagia (HP:0002015)
Associated disease: Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome (ORPHA:488627)
Gene: PUS3
Phenotype: Multifocal hyperintensity of cerebral white matter on MRI (HP:0040329)
Associated disease: Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome (ORPHA:488627)
Gene: PUS3
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome (ORPHA:488627)
Gene: PUS3
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND GRAY SCLERAE (OMIM:617051)
Gene: PUS3
Phenotype: Gait imbalance (HP:0002141)
Associated disease: Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome (ORPHA:488627)
Gene: PUS3
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome (ORPHA:488627)
Gene: PUS3
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome (ORPHA:488627)
Gene: PUS3
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND GRAY SCLERAE (OMIM:617051)
Gene: PUS3
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome (ORPHA:488627)
Gene: PUS3
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND GRAY SCLERAE (OMIM:617051)
Gene: PUS3
Phenotype: Pseudobulbar affect (HP:0002193)
Associated disease: Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome (ORPHA:488627)
Gene: PUS3
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND GRAY SCLERAE (OMIM:617051)
Gene: PUS3
Phenotype: Arachnoid cyst (HP:0100702)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND GRAY SCLERAE (OMIM:617051)
Gene: PUS3
Phenotype: Arachnoid cyst (HP:0100702)
Associated disease: Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome (ORPHA:488627)
Gene: PUS3
Phenotype: Multifocal cerebral white matter abnormalities (HP:0007052)
Associated disease: Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome (ORPHA:488627)
Gene: PUS3
Phenotype: Visual hallucination (HP:0002367)
Associated disease: Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome (ORPHA:488627)
Gene: PUS3
Phenotype: Tubulointerstitial nephritis (HP:0001970)
Associated disease: Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome (ORPHA:488627)
Gene: PUS3
Phenotype: Chronic kidney disease (HP:0012622)
Associated disease: Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome (ORPHA:488627)
Gene: PUS3
Phenotype: Nystagmus (HP:0000639)
Associated disease: Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome (ORPHA:488627)
Gene: PUS3
Phenotype: Dysplastic corpus callosum (HP:0006989)
Associated disease: Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome (ORPHA:488627)
Gene: PUS3
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome (ORPHA:488627)
Gene: PUS3
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome (ORPHA:488627)
Gene: PUS3
Phenotype: Psychosis (HP:0000709)
Associated disease: Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome (ORPHA:488627)
Gene: PUS3
Phenotype: Reduced social responsiveness (HP:0012760)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND GRAY SCLERAE (OMIM:617051)
Gene: PUS3
Phenotype: Cyanosis (HP:0000961)
Associated disease: Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome (ORPHA:488627)
Gene: PUS3
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome (ORPHA:488627)
Gene: PUS3
Phenotype: Coarse facial features (HP:0000280)
Associated disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND GRAY SCLERAE (OMIM:617051)