TaoMedAI/RareMedData huggingface dataset:
Gene: B9D2
Phenotype: Sloping forehead (HP:0000340)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D2
Phenotype: Micrognathia (HP:0000347)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D2
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D2
Phenotype: Pancreatic cysts (HP:0001737)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D2
Phenotype: Strabismus (HP:0000486)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: B9D2
Phenotype: Microcornea (HP:0000482)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D2
Phenotype: Anteverted nares (HP:0000463)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: B9D2
Phenotype: Depressed nasal ridge (HP:0000457)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D2
Phenotype: Asplenia (HP:0001746)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D2
Phenotype: Accessory spleen (HP:0001747)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D2
Phenotype: Prominent nasal bridge (HP:0000426)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: B9D2
Phenotype: Cystic liver disease (HP:0006706)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D2
Phenotype: Cataract (HP:0000518)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D2
Phenotype: Anophthalmia (HP:0000528)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D2
Phenotype: Foot polydactyly (HP:0001829)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: B9D2
Phenotype: Ptosis (HP:0000508)
Associated disease: MECKEL SYNDROME, TYPE 10 (OMIM:614175)
Gene: B9D2
Phenotype: Ptosis (HP:0000508)
Associated disease: CPD IV; Joubert syndrome type A; Pure Joubert syndrome; Joubert syndrome; Joubert-Boltshauser syndrome; Cerebelloparenchymal disorder IV; Classic Joubert syndrome (ORPHA:475)
Gene: B9D2
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D2
Phenotype: Postaxial foot polydactyly (HP:0001830)
Associated disease: MECKEL SYNDROME, TYPE 10 (OMIM:614175)
Gene: B9D2
Phenotype: Microphthalmia (HP:0000568)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D2
Phenotype: Abnormal chorioretinal morphology (HP:0000532)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: B9D2
Phenotype: Talipes (HP:0001883)
Associated disease: Meckel-Gruber syndrome; Dysencephalia splanchnocystica; Meckel syndrome (ORPHA:564)
Gene: COL18A1
Phenotype: Lens subluxation (HP:0001132)
Associated disease: KNOBLOCH SYNDROME 1 (OMIM:267750)
Gene: COL18A1
Phenotype: Macular hypoplasia (HP:0001104)
Associated disease: KNOBLOCH SYNDROME 1 (OMIM:267750)
Gene: COL18A1
Phenotype: Occipital meningocele (HP:0002436)
Associated disease: KNOBLOCH SYNDROME 1 (OMIM:267750)
Gene: COL18A1
Phenotype: Visual field defect (HP:0001123)
Associated disease: GLAUCOMA, PRIMARY CLOSED-ANGLE (OMIM:618880)
Gene: COL18A1
Phenotype: Persistent pupillary membrane (HP:0009917)
Associated disease: KNOBLOCH SYNDROME 1 (OMIM:267750)
Gene: COL18A1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: KNOBLOCH SYNDROME 1 (OMIM:267750)
Gene: COL18A1
Phenotype: Seizure (HP:0001250)
Associated disease: Knobloch syndrome; Knobloch-Layer syndrome; Retinal detachment-occipital encephalocele syndrome (ORPHA:1571)
Gene: COL18A1
Phenotype: Seizure (HP:0001250)
Associated disease: KNOBLOCH SYNDROME 1 (OMIM:267750)
Gene: COL18A1
Phenotype: Ataxia (HP:0001251)
Associated disease: KNOBLOCH SYNDROME 1 (OMIM:267750)
Gene: COL18A1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: KNOBLOCH SYNDROME 1 (OMIM:267750)
Gene: COL18A1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: KNOBLOCH SYNDROME 1 (OMIM:267750)
Gene: COL18A1
Phenotype: Duplicated collecting system (HP:0000081)
Associated disease: KNOBLOCH SYNDROME 1 (OMIM:267750)
Gene: COL18A1
Phenotype: Vesicoureteral reflux (HP:0000076)
Associated disease: Knobloch syndrome; Knobloch-Layer syndrome; Retinal detachment-occipital encephalocele syndrome (ORPHA:1571)
Gene: COL18A1
Phenotype: Renal duplication (HP:0000075)
Associated disease: KNOBLOCH SYNDROME 1 (OMIM:267750)
Gene: COL18A1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Knobloch syndrome; Knobloch-Layer syndrome; Retinal detachment-occipital encephalocele syndrome (ORPHA:1571)
Gene: COL18A1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: KNOBLOCH SYNDROME 1 (OMIM:267750)
Gene: COL18A1
Phenotype: Calvarial skull defect (HP:0001362)
Associated disease: Knobloch syndrome; Knobloch-Layer syndrome; Retinal detachment-occipital encephalocele syndrome (ORPHA:1571)
Gene: COL18A1
Phenotype: Absent septum pellucidum (HP:0001331)
Associated disease: KNOBLOCH SYNDROME 1 (OMIM:267750)
Gene: COL18A1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: KNOBLOCH SYNDROME 1 (OMIM:267750)
Gene: COL18A1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: GLAUCOMA, PRIMARY CLOSED-ANGLE (OMIM:618880)
Gene: COL18A1
Phenotype: Peripapillary atrophy (HP:0500087)
Associated disease: KNOBLOCH SYNDROME 1 (OMIM:267750)
Gene: COL18A1
Phenotype: Angle closure glaucoma (HP:0012109)
Associated disease: GLAUCOMA, PRIMARY CLOSED-ANGLE (OMIM:618880)
Gene: COL18A1
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: KNOBLOCH SYNDROME 1 (OMIM:267750)
Gene: COL18A1
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: KNOBLOCH SYNDROME 1 (OMIM:267750)
Gene: COL18A1
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: Knobloch syndrome; Knobloch-Layer syndrome; Retinal detachment-occipital encephalocele syndrome (ORPHA:1571)
Gene: COL18A1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: Knobloch syndrome; Knobloch-Layer syndrome; Retinal detachment-occipital encephalocele syndrome (ORPHA:1571)
Gene: COL18A1
Phenotype: Midface retrusion (HP:0011800)
Associated disease: KNOBLOCH SYNDROME 1 (OMIM:267750)
Gene: COL18A1
Phenotype: Occipital encephalocele (HP:0002085)
Associated disease: KNOBLOCH SYNDROME 1 (OMIM:267750)
Gene: COL18A1
Phenotype: Occipital encephalocele (HP:0002085)
Associated disease: Knobloch syndrome; Knobloch-Layer syndrome; Retinal detachment-occipital encephalocele syndrome (ORPHA:1571)
Gene: COL18A1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: KNOBLOCH SYNDROME 1 (OMIM:267750)
Gene: COL18A1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: KNOBLOCH SYNDROME 1 (OMIM:267750)
Gene: COL18A1
Phenotype: Polymicrogyria (HP:0002126)
Associated disease: KNOBLOCH SYNDROME 1 (OMIM:267750)
Gene: COL18A1
Phenotype: Congenital onset (HP:0003577)
Associated disease: KNOBLOCH SYNDROME 1 (OMIM:267750)
Gene: COL18A1
Phenotype: Lymphangioma (HP:0100764)
Associated disease: Knobloch syndrome; Knobloch-Layer syndrome; Retinal detachment-occipital encephalocele syndrome (ORPHA:1571)
Gene: COL18A1
Phenotype: Alopecia of scalp (HP:0002293)
Associated disease: KNOBLOCH SYNDROME 1 (OMIM:267750)
Gene: COL18A1
Phenotype: Ectopia lentis (HP:0001083)
Associated disease: Knobloch syndrome; Knobloch-Layer syndrome; Retinal detachment-occipital encephalocele syndrome (ORPHA:1571)
Gene: COL18A1
Phenotype: Gaze-evoked nystagmus (HP:0000640)
Associated disease: KNOBLOCH SYNDROME 1 (OMIM:267750)
Gene: COL18A1
Phenotype: Nystagmus (HP:0000639)
Associated disease: KNOBLOCH SYNDROME 1 (OMIM:267750)
Gene: COL18A1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Knobloch syndrome; Knobloch-Layer syndrome; Retinal detachment-occipital encephalocele syndrome (ORPHA:1571)
Gene: COL18A1
Phenotype: Macular degeneration (HP:0000608)
Associated disease: Knobloch syndrome; Knobloch-Layer syndrome; Retinal detachment-occipital encephalocele syndrome (ORPHA:1571)
Gene: COL18A1
Phenotype: Phthisis bulbi (HP:0000667)
Associated disease: KNOBLOCH SYNDROME 1 (OMIM:267750)
Gene: COL18A1
Phenotype: Horizontal nystagmus (HP:0000666)
Associated disease: KNOBLOCH SYNDROME 1 (OMIM:267750)
Gene: COL18A1
Phenotype: Abnormal vitreous humor morphology (HP:0004327)
Associated disease: Knobloch syndrome; Knobloch-Layer syndrome; Retinal detachment-occipital encephalocele syndrome (ORPHA:1571)
Gene: COL18A1
Phenotype: Cortical cataract (HP:0100019)
Associated disease: KNOBLOCH SYNDROME 1 (OMIM:267750)
Gene: COL18A1
Phenotype: Anterior synechiae of the anterior chamber (HP:0011483)
Associated disease: GLAUCOMA, PRIMARY CLOSED-ANGLE (OMIM:618880)
Gene: COL18A1
Phenotype: Increased cup-to-disc ratio (HP:0012796)
Associated disease: GLAUCOMA, PRIMARY CLOSED-ANGLE (OMIM:618880)
Gene: COL18A1
Phenotype: Childhood onset (HP:0011463)
Associated disease: KNOBLOCH SYNDROME 1 (OMIM:267750)
Gene: COL18A1
Phenotype: Iris transillumination defect (HP:0012805)
Associated disease: KNOBLOCH SYNDROME 1 (OMIM:267750)
Gene: COL18A1
Phenotype: Spina bifida occulta (HP:0003298)
Associated disease: KNOBLOCH SYNDROME 1 (OMIM:267750)
Gene: COL18A1
Phenotype: Epicanthus (HP:0000286)
Associated disease: KNOBLOCH SYNDROME 1 (OMIM:267750)
Gene: COL18A1
Phenotype: Epicanthus (HP:0000286)
Associated disease: Knobloch syndrome; Knobloch-Layer syndrome; Retinal detachment-occipital encephalocele syndrome (ORPHA:1571)
Gene: COL18A1
Phenotype: Abnormal hair morphology (HP:0001595)
Associated disease: Knobloch syndrome; Knobloch-Layer syndrome; Retinal detachment-occipital encephalocele syndrome (ORPHA:1571)
Gene: COL18A1
Phenotype: Narrow face (HP:0000275)
Associated disease: KNOBLOCH SYNDROME 1 (OMIM:267750)
Gene: COL18A1
Phenotype: Vitreoretinopathy (HP:0007773)
Associated disease: KNOBLOCH SYNDROME 1 (OMIM:267750)
Gene: COL18A1
Phenotype: Vitreoretinopathy (HP:0007773)
Associated disease: Knobloch syndrome; Knobloch-Layer syndrome; Retinal detachment-occipital encephalocele syndrome (ORPHA:1571)
Gene: COL18A1
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: Knobloch syndrome; Knobloch-Layer syndrome; Retinal detachment-occipital encephalocele syndrome (ORPHA:1571)
Gene: COL18A1
Phenotype: Microcephaly (HP:0000252)
Associated disease: KNOBLOCH SYNDROME 1 (OMIM:267750)
Gene: COL18A1
Phenotype: Bifid ureter (HP:0030037)
Associated disease: KNOBLOCH SYNDROME 1 (OMIM:267750)
Gene: COL18A1
Phenotype: Bifid ureter (HP:0030037)
Associated disease: Knobloch syndrome; Knobloch-Layer syndrome; Retinal detachment-occipital encephalocele syndrome (ORPHA:1571)
Gene: COL18A1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: KNOBLOCH SYNDROME 1 (OMIM:267750)
Gene: COL18A1
Phenotype: High myopia (HP:0011003)
Associated disease: KNOBLOCH SYNDROME 1 (OMIM:267750)
Gene: COL18A1
Phenotype: Narrow forehead (HP:0000341)
Associated disease: KNOBLOCH SYNDROME 1 (OMIM:267750)
Gene: COL18A1
Phenotype: Dextrocardia (HP:0001651)
Associated disease: Knobloch syndrome; Knobloch-Layer syndrome; Retinal detachment-occipital encephalocele syndrome (ORPHA:1571)
Gene: COL18A1
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: KNOBLOCH SYNDROME 1 (OMIM:267750)
Gene: COL18A1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: Knobloch syndrome; Knobloch-Layer syndrome; Retinal detachment-occipital encephalocele syndrome (ORPHA:1571)
Gene: COL18A1
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: KNOBLOCH SYNDROME 1 (OMIM:267750)
Gene: COL18A1
Phenotype: Ocular hypertension (HP:0007906)
Associated disease: GLAUCOMA, PRIMARY CLOSED-ANGLE (OMIM:618880)
Gene: COL18A1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: Knobloch syndrome; Knobloch-Layer syndrome; Retinal detachment-occipital encephalocele syndrome (ORPHA:1571)
Gene: COL18A1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: KNOBLOCH SYNDROME 1 (OMIM:267750)
Gene: COL18A1
Phenotype: Strabismus (HP:0000486)
Associated disease: Knobloch syndrome; Knobloch-Layer syndrome; Retinal detachment-occipital encephalocele syndrome (ORPHA:1571)
Gene: COL18A1
Phenotype: Slow pupillary light response (HP:0030211)
Associated disease: KNOBLOCH SYNDROME 1 (OMIM:267750)
Gene: COL18A1
Phenotype: Bulbous nose (HP:0000414)
Associated disease: KNOBLOCH SYNDROME 1 (OMIM:267750)
Gene: COL18A1
Phenotype: Cataract (HP:0000518)
Associated disease: Knobloch syndrome; Knobloch-Layer syndrome; Retinal detachment-occipital encephalocele syndrome (ORPHA:1571)
Gene: COL18A1
Phenotype: Developmental cataract (HP:0000519)
Associated disease: KNOBLOCH SYNDROME 1 (OMIM:267750)
Gene: COL18A1
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: Knobloch syndrome; Knobloch-Layer syndrome; Retinal detachment-occipital encephalocele syndrome (ORPHA:1571)
Gene: COL18A1
Phenotype: Telecanthus (HP:0000506)
Associated disease: KNOBLOCH SYNDROME 1 (OMIM:267750)
Gene: COL18A1
Phenotype: Visual impairment (HP:0000505)
Associated disease: KNOBLOCH SYNDROME 1 (OMIM:267750)
Gene: COL18A1
Phenotype: Glaucoma (HP:0000501)
Associated disease: KNOBLOCH SYNDROME 1 (OMIM:267750)
Gene: COL18A1
Phenotype: Band keratopathy (HP:0000585)
Associated disease: KNOBLOCH SYNDROME 1 (OMIM:267750)
Gene: COL18A1
Phenotype: Horizontal eyebrow (HP:0011228)
Associated disease: KNOBLOCH SYNDROME 1 (OMIM:267750)
Gene: COL18A1
Phenotype: Prominent forehead (HP:0011220)
Associated disease: KNOBLOCH SYNDROME 1 (OMIM:267750)
Gene: COL18A1
Phenotype: Visual loss (HP:0000572)
Associated disease: Knobloch syndrome; Knobloch-Layer syndrome; Retinal detachment-occipital encephalocele syndrome (ORPHA:1571)
Gene: COL18A1
Phenotype: Retinal detachment (HP:0000541)
Associated disease: Knobloch syndrome; Knobloch-Layer syndrome; Retinal detachment-occipital encephalocele syndrome (ORPHA:1571)
Gene: COL18A1
Phenotype: Retinal detachment (HP:0000541)
Associated disease: KNOBLOCH SYNDROME 1 (OMIM:267750)
Gene: COL18A1
Phenotype: Chorioretinal atrophy (HP:0000533)
Associated disease: KNOBLOCH SYNDROME 1 (OMIM:267750)
Gene: COL18A1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: KNOBLOCH SYNDROME 1 (OMIM:267750)
Gene: COL18A1
Phenotype: Myopia (HP:0000545)
Associated disease: Knobloch syndrome; Knobloch-Layer syndrome; Retinal detachment-occipital encephalocele syndrome (ORPHA:1571)
Gene: ASXL3
Phenotype: Hand clenching (HP:0001188)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: Bainbridge-Ropers syndrome; Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome (ORPHA:352577)
Gene: ASXL3
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: Bainbridge-Ropers syndrome; Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome (ORPHA:352577)
Gene: ASXL3
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Hypertonia (HP:0001276)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Hypertonia (HP:0001276)
Associated disease: Bainbridge-Ropers syndrome; Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome (ORPHA:352577)
Gene: ASXL3
Phenotype: Seizure (HP:0001250)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Seizure (HP:0001250)
Associated disease: Bainbridge-Ropers syndrome; Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome (ORPHA:352577)
Gene: ASXL3
Phenotype: Hypotonia (HP:0001252)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Bainbridge-Ropers syndrome; Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome (ORPHA:352577)
Gene: ASXL3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Bainbridge-Ropers syndrome; Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome (ORPHA:352577)
Gene: ASXL3
Phenotype: Supernumerary nipple (HP:0002558)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Intestinal malrotation (HP:0002566)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Inability to walk (HP:0002540)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Inability to walk (HP:0002540)
Associated disease: Bainbridge-Ropers syndrome; Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome (ORPHA:352577)
Gene: ASXL3
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Highly arched eyebrow (HP:0002553)
Associated disease: Bainbridge-Ropers syndrome; Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome (ORPHA:352577)
Gene: ASXL3
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: Bainbridge-Ropers syndrome; Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome (ORPHA:352577)
Gene: ASXL3
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: Bainbridge-Ropers syndrome; Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome (ORPHA:352577)
Gene: ASXL3
Phenotype: Deep palmar crease (HP:0006191)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Absent speech (HP:0001344)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Absent speech (HP:0001344)
Associated disease: Bainbridge-Ropers syndrome; Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome (ORPHA:352577)
Gene: ASXL3
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Cerebellar vermis hypoplasia (HP:0001320)
Associated disease: Bainbridge-Ropers syndrome; Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome (ORPHA:352577)
Gene: ASXL3
Phenotype: Scoliosis (HP:0002650)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Scoliosis (HP:0002650)
Associated disease: Bainbridge-Ropers syndrome; Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome (ORPHA:352577)
Gene: ASXL3
Phenotype: Open mouth (HP:0000194)
Associated disease: Bainbridge-Ropers syndrome; Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome (ORPHA:352577)
Gene: ASXL3
Phenotype: Wide mouth (HP:0000154)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Floppy infant (HP:0008947)
Associated disease: Bainbridge-Ropers syndrome; Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome (ORPHA:352577)
Gene: ASXL3
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Bainbridge-Ropers syndrome; Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome (ORPHA:352577)
Gene: ASXL3
Phenotype: Recurrent infections (HP:0002719)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Short columella (HP:0002000)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Vomiting (HP:0002013)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Decreased facial expression (HP:0004673)
Associated disease: Bainbridge-Ropers syndrome; Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome (ORPHA:352577)
Gene: ASXL3
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Nasogastric tube feeding (HP:0040288)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Ulnar deviation of the hand (HP:0009487)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: Bainbridge-Ropers syndrome; Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome (ORPHA:352577)
Gene: ASXL3
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Bainbridge-Ropers syndrome; Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome (ORPHA:352577)
Gene: ASXL3
Phenotype: Self-injurious behavior (HP:0100716)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Inferior cerebellar vermis hypoplasia (HP:0007068)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Bainbridge-Ropers syndrome; Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome (ORPHA:352577)
Gene: ASXL3
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: Bainbridge-Ropers syndrome; Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome (ORPHA:352577)
Gene: ASXL3
Phenotype: Hirsutism (HP:0001007)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Tube feeding (HP:0033454)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Low hanging columella (HP:0009765)
Associated disease: Bainbridge-Ropers syndrome; Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome (ORPHA:352577)
Gene: ASXL3
Phenotype: Periorbital fullness (HP:0000629)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Dental crowding (HP:0000678)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Dental crowding (HP:0000678)
Associated disease: Bainbridge-Ropers syndrome; Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome (ORPHA:352577)
Gene: ASXL3
Phenotype: Metopic synostosis (HP:0011330)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)
Gene: ASXL3
Phenotype: Synophrys (HP:0000664)
Associated disease: BAINBRIDGE-ROPERS SYNDROME (OMIM:615485)