TaoMedAI/RareMedData huggingface dataset:
Gene: TMEM98
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: NANOPHTHALMOS 4 (OMIM:615972)
Gene: TMEM98
Phenotype: Angle closure glaucoma (HP:0012109)
Associated disease: NANOPHTHALMOS 4 (OMIM:615972)
Gene: TMEM98
Phenotype: Congenital onset (HP:0003577)
Associated disease: NANOPHTHALMOS 4 (OMIM:615972)
Gene: TMEM98
Phenotype: High hypermetropia (HP:0008499)
Associated disease: Nanophthalmos; Nanophthalmia (ORPHA:35612)
Gene: TMEM98
Phenotype: Abnormal choroid morphology (HP:0000610)
Associated disease: Nanophthalmos; Nanophthalmia (ORPHA:35612)
Gene: TMEM98
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Nanophthalmos; Nanophthalmia (ORPHA:35612)
Gene: TMEM98
Phenotype: Strabismus (HP:0000486)
Associated disease: Nanophthalmos; Nanophthalmia (ORPHA:35612)
Gene: TMEM98
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: NANOPHTHALMOS 4 (OMIM:615972)
Gene: TMEM98
Phenotype: Glaucoma (HP:0000501)
Associated disease: Nanophthalmos; Nanophthalmia (ORPHA:35612)
Gene: TMEM98
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Nanophthalmos; Nanophthalmia (ORPHA:35612)
Gene: TMEM98
Phenotype: Microphthalmia (HP:0000568)
Associated disease: NANOPHTHALMOS 4 (OMIM:615972)
Gene: TMEM98
Phenotype: Hypermetropia (HP:0000540)
Associated disease: NANOPHTHALMOS 4 (OMIM:615972)
Gene: CHD5
Phenotype: Microtia (HP:0008551)
Associated disease: PARENTI-MIGNOT NEURODEVELOPMENTAL SYNDROME (OMIM:619873)
Gene: CHD5
Phenotype: Motor delay (HP:0001270)
Associated disease: PARENTI-MIGNOT NEURODEVELOPMENTAL SYNDROME (OMIM:619873)
Gene: CHD5
Phenotype: Seizure (HP:0001250)
Associated disease: PARENTI-MIGNOT NEURODEVELOPMENTAL SYNDROME (OMIM:619873)
Gene: CHD5
Phenotype: Hypotonia (HP:0001252)
Associated disease: PARENTI-MIGNOT NEURODEVELOPMENTAL SYNDROME (OMIM:619873)
Gene: CHD5
Phenotype: Intellectual disability (HP:0001249)
Associated disease: PARENTI-MIGNOT NEURODEVELOPMENTAL SYNDROME (OMIM:619873)
Gene: CHD5
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: PARENTI-MIGNOT NEURODEVELOPMENTAL SYNDROME (OMIM:619873)
Gene: CHD5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CHD5
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: PARENTI-MIGNOT NEURODEVELOPMENTAL SYNDROME (OMIM:619873)
Gene: CHD5
Phenotype: Varicose veins (HP:0002619)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CHD5
Phenotype: Skin-picking (HP:0012166)
Associated disease: PARENTI-MIGNOT NEURODEVELOPMENTAL SYNDROME (OMIM:619873)
Gene: CHD5
Phenotype: Cleft palate (HP:0000175)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CHD5
Phenotype: Frontal bossing (HP:0002007)
Associated disease: PARENTI-MIGNOT NEURODEVELOPMENTAL SYNDROME (OMIM:619873)
Gene: CHD5
Phenotype: Infantile onset (HP:0003593)
Associated disease: PARENTI-MIGNOT NEURODEVELOPMENTAL SYNDROME (OMIM:619873)
Gene: CHD5
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: PARENTI-MIGNOT NEURODEVELOPMENTAL SYNDROME (OMIM:619873)
Gene: CHD5
Phenotype: Predominantly lower limb lymphedema (HP:0003550)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CHD5
Phenotype: Distichiasis (HP:0009743)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CHD5
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: PARENTI-MIGNOT NEURODEVELOPMENTAL SYNDROME (OMIM:619873)
Gene: CHD5
Phenotype: Lymphedema (HP:0001004)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CHD5
Phenotype: Cellulitis (HP:0100658)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CHD5
Phenotype: Photophobia (HP:0000613)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CHD5
Phenotype: Yellow nails (HP:0011367)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CHD5
Phenotype: Ectropion (HP:0000656)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CHD5
Phenotype: Synophrys (HP:0000664)
Associated disease: PARENTI-MIGNOT NEURODEVELOPMENTAL SYNDROME (OMIM:619873)
Gene: CHD5
Phenotype: Abnormality of the musculature (HP:0003011)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CHD5
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: PARENTI-MIGNOT NEURODEVELOPMENTAL SYNDROME (OMIM:619873)
Gene: CHD5
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: PARENTI-MIGNOT NEURODEVELOPMENTAL SYNDROME (OMIM:619873)
Gene: CHD5
Phenotype: Autistic behavior (HP:0000729)
Associated disease: PARENTI-MIGNOT NEURODEVELOPMENTAL SYNDROME (OMIM:619873)
Gene: CHD5
Phenotype: Compulsive behaviors (HP:0000722)
Associated disease: PARENTI-MIGNOT NEURODEVELOPMENTAL SYNDROME (OMIM:619873)
Gene: CHD5
Phenotype: Corneal ulceration (HP:0012804)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CHD5
Phenotype: Chylothorax (HP:0010310)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CHD5
Phenotype: Arrhythmia (HP:0011675)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CHD5
Phenotype: Epicanthus (HP:0000286)
Associated disease: PARENTI-MIGNOT NEURODEVELOPMENTAL SYNDROME (OMIM:619873)
Gene: CHD5
Phenotype: Kyphosis (HP:0002808)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CHD5
Phenotype: Cleft upper lip (HP:0000204)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CHD5
Phenotype: Cupped ear (HP:0000378)
Associated disease: PARENTI-MIGNOT NEURODEVELOPMENTAL SYNDROME (OMIM:619873)
Gene: CHD5
Phenotype: Posteriorly rotated ears (HP:0000358)
Associated disease: PARENTI-MIGNOT NEURODEVELOPMENTAL SYNDROME (OMIM:619873)
Gene: CHD5
Phenotype: Low-set ears (HP:0000369)
Associated disease: PARENTI-MIGNOT NEURODEVELOPMENTAL SYNDROME (OMIM:619873)
Gene: CHD5
Phenotype: Micrognathia (HP:0000347)
Associated disease: PARENTI-MIGNOT NEURODEVELOPMENTAL SYNDROME (OMIM:619873)
Gene: CHD5
Phenotype: Micrognathia (HP:0000347)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CHD5
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CHD5
Phenotype: Short philtrum (HP:0000322)
Associated disease: PARENTI-MIGNOT NEURODEVELOPMENTAL SYNDROME (OMIM:619873)
Gene: CHD5
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CHD5
Phenotype: Tetralogy of Fallot (HP:0001636)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CHD5
Phenotype: Prominent nasal tip (HP:0005274)
Associated disease: PARENTI-MIGNOT NEURODEVELOPMENTAL SYNDROME (OMIM:619873)
Gene: CHD5
Phenotype: Cystic hygroma (HP:0000476)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CHD5
Phenotype: Recurrent corneal erosions (HP:0000495)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CHD5
Phenotype: Nonimmune hydrops fetalis (HP:0001790)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CHD5
Phenotype: Webbed neck (HP:0000465)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CHD5
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: PARENTI-MIGNOT NEURODEVELOPMENTAL SYNDROME (OMIM:619873)
Gene: CHD5
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CHD5
Phenotype: Ptosis (HP:0000508)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: CHD5
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: PARENTI-MIGNOT NEURODEVELOPMENTAL SYNDROME (OMIM:619873)
Gene: CHD5
Phenotype: Microphthalmia (HP:0000568)
Associated disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Gene: SETBP1
Phenotype: Postaxial hand polydactyly (HP:0001162)
Associated disease: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME (OMIM:269150)
Gene: SETBP1
Phenotype: Abnormal stapes morphology (HP:0008628)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Infantile sensorineural hearing impairment (HP:0008610)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Frequent temper tantrums (HP:0025161)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
Gene: SETBP1
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME (OMIM:269150)
Gene: SETBP1
Phenotype: Short distal phalanx of finger (HP:0009882)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Stiff elbow (HP:0025259)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Hypertonia (HP:0001276)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
Gene: SETBP1
Phenotype: Hypertonia (HP:0001276)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Motor delay (HP:0001270)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
Gene: SETBP1
Phenotype: Seizure (HP:0001250)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Seizure (HP:0001250)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
Gene: SETBP1
Phenotype: Seizure (HP:0001250)
Associated disease: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME (OMIM:269150)
Gene: SETBP1
Phenotype: Hypotonia (HP:0001252)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
Gene: SETBP1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
Gene: SETBP1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME (OMIM:269150)
Gene: SETBP1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
Gene: SETBP1
Phenotype: Spasticity (HP:0001257)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Hypoplastic nipples (HP:0002557)
Associated disease: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME (OMIM:269150)
Gene: SETBP1
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME (OMIM:269150)
Gene: SETBP1
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Hypoplastic labia minora (HP:0000064)
Associated disease: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME (OMIM:269150)
Gene: SETBP1
Phenotype: Hypoplastic labia majora (HP:0000059)
Associated disease: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME (OMIM:269150)
Gene: SETBP1
Phenotype: Abnormality of the genital system (HP:0000078)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Hydroureter (HP:0000072)
Associated disease: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME (OMIM:269150)
Gene: SETBP1
Phenotype: Ureteral stenosis (HP:0000071)
Associated disease: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME (OMIM:269150)
Gene: SETBP1
Phenotype: Abnormality of the ureter (HP:0000069)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Small scrotum (HP:0000046)
Associated disease: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME (OMIM:269150)
Gene: SETBP1
Phenotype: Micropenis (HP:0000054)
Associated disease: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME (OMIM:269150)
Gene: SETBP1
Phenotype: Micropenis (HP:0000054)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Hip dysplasia (HP:0001385)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
Gene: SETBP1
Phenotype: Hypospadias (HP:0000047)
Associated disease: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME (OMIM:269150)
Gene: SETBP1
Phenotype: Hypospadias (HP:0000047)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME (OMIM:269150)
Gene: SETBP1
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
Gene: SETBP1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME (OMIM:269150)
Gene: SETBP1
Phenotype: Absent speech (HP:0001344)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
Gene: SETBP1
Phenotype: Nephroblastoma (HP:0002667)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME (OMIM:269150)
Gene: SETBP1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
Gene: SETBP1
Phenotype: Scoliosis (HP:0002650)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Wormian bones (HP:0002645)
Associated disease: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME (OMIM:269150)
Gene: SETBP1
Phenotype: Wormian bones (HP:0002645)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Broad alveolar ridges (HP:0000187)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Narrow palate (HP:0000189)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
Gene: SETBP1
Phenotype: Open mouth (HP:0000194)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
Gene: SETBP1
Phenotype: Narrow mouth (HP:0000160)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
Gene: SETBP1
Phenotype: Macroglossia (HP:0000158)
Associated disease: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME (OMIM:269150)
Gene: SETBP1
Phenotype: Macroglossia (HP:0000158)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Abnormality of the gingiva (HP:0000168)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Wide mouth (HP:0000154)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME (OMIM:269150)
Gene: SETBP1
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Renal cyst (HP:0000107)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Dysphagia (HP:0002015)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
Gene: SETBP1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Hyperlordosis (HP:0003307)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
Gene: SETBP1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME (OMIM:269150)
Gene: SETBP1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Pulmonary hypoplasia (HP:0002089)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Respiratory distress (HP:0002098)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME (OMIM:269150)
Gene: SETBP1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME (OMIM:269150)
Gene: SETBP1
Phenotype: Streak ovary (HP:0010464)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Central hypothyroidism (HP:0011787)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME (OMIM:269150)
Gene: SETBP1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
Gene: SETBP1
Phenotype: Choroid plexus cyst (HP:0002190)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Opisthotonus (HP:0002179)
Associated disease: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME (OMIM:269150)
Gene: SETBP1
Phenotype: Cutaneous finger syndactyly (HP:0010554)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
Gene: SETBP1
Phenotype: Overlapping fingers (HP:0010557)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Infantile onset (HP:0003593)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
Gene: SETBP1
Phenotype: Aganglionic megacolon (HP:0002251)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
Gene: SETBP1
Phenotype: Large earlobe (HP:0009748)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
Gene: SETBP1
Phenotype: Splenopancreatic fusion (HP:0032075)
Associated disease: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME (OMIM:269150)
Gene: SETBP1
Phenotype: Chiari type I malformation (HP:0007099)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Nevus flammeus (HP:0001052)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
Gene: SETBP1
Phenotype: Aphasia (HP:0002381)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
Gene: SETBP1
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
Gene: SETBP1
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
Gene: SETBP1
Phenotype: Hirsutism (HP:0001007)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
Gene: SETBP1
Phenotype: Teratoma (HP:0009792)
Associated disease: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME (OMIM:269150)
Gene: SETBP1
Phenotype: Teratoma (HP:0009792)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Broad hallux (HP:0010055)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
Gene: SETBP1
Phenotype: Short 1st metacarpal (HP:0010034)
Associated disease: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME (OMIM:269150)
Gene: SETBP1
Phenotype: Short 1st metacarpal (HP:0010034)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Delayed eruption of teeth (HP:0000684)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Dental crowding (HP:0000678)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
Gene: SETBP1
Phenotype: Synophrys (HP:0000664)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
Gene: SETBP1
Phenotype: Short palpebral fissure (HP:0012745)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
Gene: SETBP1
Phenotype: Aplasia/Hypoplasia of the pubic bone (HP:0009104)
Associated disease: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME (OMIM:269150)
Gene: SETBP1
Phenotype: Hyperactivity (HP:0000752)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
Gene: SETBP1
Phenotype: Profound global developmental delay (HP:0012736)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Abnormal thorax morphology (HP:0000765)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Anxiety (HP:0000739)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
Gene: SETBP1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
Gene: SETBP1
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
Gene: SETBP1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
Gene: SETBP1
Phenotype: Gastrostomy tube feeding in infancy (HP:0011471)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Neurodevelopmental delay (HP:0012758)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Nephrolithiasis (HP:0000787)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Sacrococcygeal teratoma (HP:0030736)
Associated disease: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME (OMIM:269150)
Gene: SETBP1
Phenotype: Sacrococcygeal teratoma (HP:0030736)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Short nose (HP:0003196)
Associated disease: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME (OMIM:269150)
Gene: SETBP1
Phenotype: Short nose (HP:0003196)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Hypoplastic pubic bone (HP:0003173)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Widely patent fontanelles and sutures (HP:0004492)
Associated disease: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME (OMIM:269150)
Gene: SETBP1
Phenotype: Short sternum (HP:0000879)
Associated disease: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME (OMIM:269150)
Gene: SETBP1
Phenotype: Long clavicles (HP:0000890)
Associated disease: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME (OMIM:269150)
Gene: SETBP1
Phenotype: Abnormal clavicle morphology (HP:0000889)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Broad ribs (HP:0000885)
Associated disease: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME (OMIM:269150)
Gene: SETBP1
Phenotype: Broad ribs (HP:0000885)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Bicornuate uterus (HP:0000813)
Associated disease: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME (OMIM:269150)
Gene: SETBP1
Phenotype: Ankyloglossia (HP:0010296)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29 (OMIM:616078)
Gene: SETBP1
Phenotype: Generalized hypertrichosis (HP:0004554)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)
Gene: SETBP1
Phenotype: Hypertrichosis (HP:0000998)
Associated disease: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME (OMIM:269150)
Gene: SETBP1
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME (OMIM:269150)
Gene: SETBP1
Phenotype: Thickened cortex of long bones (HP:0000935)
Associated disease: SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME (OMIM:269150)
Gene: SETBP1
Phenotype: Neural tube defect (HP:0045005)
Associated disease: Schinzel-Giedion syndrome; SGS (ORPHA:798)