TaoMedAI/RareMedData huggingface dataset:
Gene: DVL3
Phenotype: Anteverted nares (HP:0000463)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 (OMIM:616894)
Gene: DVL3
Phenotype: Short neck (HP:0000470)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL3
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DVL3
Phenotype: Short neck (HP:0000470)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 (OMIM:616894)
Gene: DVL3
Phenotype: Webbed neck (HP:0000465)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 (OMIM:616894)
Gene: DVL3
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DVL3
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DVL3
Phenotype: Wide nose (HP:0000445)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL3
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL3
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 (OMIM:616894)
Gene: DVL3
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DVL3
Phenotype: Long eyelashes (HP:0000527)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL3
Phenotype: Long eyelashes (HP:0000527)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 (OMIM:616894)
Gene: DVL3
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DVL3
Phenotype: Proptosis (HP:0000520)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL3
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DVL3
Phenotype: Proptosis (HP:0000520)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 (OMIM:616894)
Gene: DVL3
Phenotype: Telecanthus (HP:0000506)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 (OMIM:616894)
Gene: DVL3
Phenotype: Ptosis (HP:0000508)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL3
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL3
Phenotype: Upslanted palpebral fissure (HP:0000582)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 (OMIM:616894)
Gene: DVL3
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DVL3
Phenotype: Blue sclerae (HP:0000592)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL3
Phenotype: Blue sclerae (HP:0000592)
Associated disease: ROBINOW SYNDROME, AUTOSOMAL DOMINANT 3 (OMIM:616894)
Gene: DVL3
Phenotype: Prominent forehead (HP:0011220)
Associated disease: Autosomal dominant Robinow syndrome (ORPHA:3107)
Gene: DVL3
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: DVL3
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: DYRK1A
Phenotype: Tapered finger (HP:0001182)
Associated disease: DYRK1A-related intellectual disability syndrome due to a point mutation; Intellectual disability syndrome due to a DYRK1A point mutation (ORPHA:464311)
Gene: DYRK1A
Phenotype: Tapered finger (HP:0001182)
Associated disease: 21q22.13q22.2 microdeletion syndrome; Del(21)(q22.13q22.2); Monosomy 21q22.13q22.2; DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (ORPHA:268261)
Gene: DYRK1A
Phenotype: Tapered finger (HP:0001182)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
Gene: DYRK1A
Phenotype: Poor speech (HP:0002465)
Associated disease: 21q22.13q22.2 microdeletion syndrome; Del(21)(q22.13q22.2); Monosomy 21q22.13q22.2; DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (ORPHA:268261)
Gene: DYRK1A
Phenotype: Dilatation of the renal pelvis (HP:0010946)
Associated disease: 21q22.13q22.2 microdeletion syndrome; Del(21)(q22.13q22.2); Monosomy 21q22.13q22.2; DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (ORPHA:268261)
Gene: DYRK1A
Phenotype: Abnormal optic chiasm morphology (HP:0025163)
Associated disease: 21q22.13q22.2 microdeletion syndrome; Del(21)(q22.13q22.2); Monosomy 21q22.13q22.2; DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (ORPHA:268261)
Gene: DYRK1A
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
Gene: DYRK1A
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
Gene: DYRK1A
Phenotype: Hypertonia (HP:0001276)
Associated disease: 21q22.13q22.2 microdeletion syndrome; Del(21)(q22.13q22.2); Monosomy 21q22.13q22.2; DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (ORPHA:268261)
Gene: DYRK1A
Phenotype: Motor delay (HP:0001270)
Associated disease: DYRK1A-related intellectual disability syndrome due to a point mutation; Intellectual disability syndrome due to a DYRK1A point mutation (ORPHA:464311)
Gene: DYRK1A
Phenotype: Gait disturbance (HP:0001288)
Associated disease: DYRK1A-related intellectual disability syndrome due to a point mutation; Intellectual disability syndrome due to a DYRK1A point mutation (ORPHA:464311)
Gene: DYRK1A
Phenotype: Gait disturbance (HP:0001288)
Associated disease: 21q22.13q22.2 microdeletion syndrome; Del(21)(q22.13q22.2); Monosomy 21q22.13q22.2; DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (ORPHA:268261)
Gene: DYRK1A
Phenotype: Gait disturbance (HP:0001288)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
Gene: DYRK1A
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: 21q22.13q22.2 microdeletion syndrome; Del(21)(q22.13q22.2); Monosomy 21q22.13q22.2; DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (ORPHA:268261)
Gene: DYRK1A
Phenotype: Seizure (HP:0001250)
Associated disease: DYRK1A-related intellectual disability syndrome due to a point mutation; Intellectual disability syndrome due to a DYRK1A point mutation (ORPHA:464311)
Gene: DYRK1A
Phenotype: Seizure (HP:0001250)
Associated disease: 21q22.13q22.2 microdeletion syndrome; Del(21)(q22.13q22.2); Monosomy 21q22.13q22.2; DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (ORPHA:268261)
Gene: DYRK1A
Phenotype: Seizure (HP:0001250)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
Gene: DYRK1A
Phenotype: Ataxia (HP:0001251)
Associated disease: 21q22.13q22.2 microdeletion syndrome; Del(21)(q22.13q22.2); Monosomy 21q22.13q22.2; DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (ORPHA:268261)
Gene: DYRK1A
Phenotype: Ataxia (HP:0001251)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
Gene: DYRK1A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DYRK1A-related intellectual disability syndrome due to a point mutation; Intellectual disability syndrome due to a DYRK1A point mutation (ORPHA:464311)
Gene: DYRK1A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: 21q22.13q22.2 microdeletion syndrome; Del(21)(q22.13q22.2); Monosomy 21q22.13q22.2; DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (ORPHA:268261)
Gene: DYRK1A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DYRK1A-related intellectual disability syndrome due to a point mutation; Intellectual disability syndrome due to a DYRK1A point mutation (ORPHA:464311)
Gene: DYRK1A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: 21q22.13q22.2 microdeletion syndrome; Del(21)(q22.13q22.2); Monosomy 21q22.13q22.2; DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (ORPHA:268261)
Gene: DYRK1A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
Gene: DYRK1A
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: 21q22.13q22.2 microdeletion syndrome; Del(21)(q22.13q22.2); Monosomy 21q22.13q22.2; DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (ORPHA:268261)
Gene: DYRK1A
Phenotype: Brain imaging abnormality (HP:0410263)
Associated disease: DYRK1A-related intellectual disability syndrome due to a point mutation; Intellectual disability syndrome due to a DYRK1A point mutation (ORPHA:464311)
Gene: DYRK1A
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
Gene: DYRK1A
Phenotype: Chordee (HP:0000041)
Associated disease: 21q22.13q22.2 microdeletion syndrome; Del(21)(q22.13q22.2); Monosomy 21q22.13q22.2; DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (ORPHA:268261)
Gene: DYRK1A
Phenotype: Micropenis (HP:0000054)
Associated disease: DYRK1A-related intellectual disability syndrome due to a point mutation; Intellectual disability syndrome due to a DYRK1A point mutation (ORPHA:464311)
Gene: DYRK1A
Phenotype: Micropenis (HP:0000054)
Associated disease: 21q22.13q22.2 microdeletion syndrome; Del(21)(q22.13q22.2); Monosomy 21q22.13q22.2; DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (ORPHA:268261)
Gene: DYRK1A
Phenotype: Hypospadias (HP:0000047)
Associated disease: DYRK1A-related intellectual disability syndrome due to a point mutation; Intellectual disability syndrome due to a DYRK1A point mutation (ORPHA:464311)
Gene: DYRK1A
Phenotype: Hypospadias (HP:0000047)
Associated disease: 21q22.13q22.2 microdeletion syndrome; Del(21)(q22.13q22.2); Monosomy 21q22.13q22.2; DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (ORPHA:268261)
Gene: DYRK1A
Phenotype: Shawl scrotum (HP:0000049)
Associated disease: 21q22.13q22.2 microdeletion syndrome; Del(21)(q22.13q22.2); Monosomy 21q22.13q22.2; DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (ORPHA:268261)
Gene: DYRK1A
Phenotype: Inguinal hernia (HP:0000023)
Associated disease: 21q22.13q22.2 microdeletion syndrome; Del(21)(q22.13q22.2); Monosomy 21q22.13q22.2; DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (ORPHA:268261)
Gene: DYRK1A
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: DYRK1A-related intellectual disability syndrome due to a point mutation; Intellectual disability syndrome due to a DYRK1A point mutation (ORPHA:464311)
Gene: DYRK1A
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: 21q22.13q22.2 microdeletion syndrome; Del(21)(q22.13q22.2); Monosomy 21q22.13q22.2; DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (ORPHA:268261)
Gene: DYRK1A
Phenotype: Feeding difficulties in infancy (HP:0008872)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
Gene: DYRK1A
Phenotype: Thin corpus callosum (HP:0033725)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
Gene: DYRK1A
Phenotype: Recurrent urinary tract infections (HP:0000010)
Associated disease: 21q22.13q22.2 microdeletion syndrome; Del(21)(q22.13q22.2); Monosomy 21q22.13q22.2; DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (ORPHA:268261)
Gene: DYRK1A
Phenotype: Absent speech (HP:0001344)
Associated disease: DYRK1A-related intellectual disability syndrome due to a point mutation; Intellectual disability syndrome due to a DYRK1A point mutation (ORPHA:464311)
Gene: DYRK1A
Phenotype: Absent speech (HP:0001344)
Associated disease: 21q22.13q22.2 microdeletion syndrome; Del(21)(q22.13q22.2); Monosomy 21q22.13q22.2; DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (ORPHA:268261)
Gene: DYRK1A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: DYRK1A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
Gene: DYRK1A
Phenotype: Scoliosis (HP:0002650)
Associated disease: DYRK1A-related intellectual disability syndrome due to a point mutation; Intellectual disability syndrome due to a DYRK1A point mutation (ORPHA:464311)
Gene: DYRK1A
Phenotype: Scoliosis (HP:0002650)
Associated disease: 21q22.13q22.2 microdeletion syndrome; Del(21)(q22.13q22.2); Monosomy 21q22.13q22.2; DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (ORPHA:268261)
Gene: DYRK1A
Phenotype: Cleft soft palate (HP:0000185)
Associated disease: 21q22.13q22.2 microdeletion syndrome; Del(21)(q22.13q22.2); Monosomy 21q22.13q22.2; DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (ORPHA:268261)
Gene: DYRK1A
Phenotype: Stereotypical hand wringing (HP:0012171)
Associated disease: 21q22.13q22.2 microdeletion syndrome; Del(21)(q22.13q22.2); Monosomy 21q22.13q22.2; DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (ORPHA:268261)
Gene: DYRK1A
Phenotype: Stereotypical hand wringing (HP:0012171)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
Gene: DYRK1A
Phenotype: Thick lower lip vermilion (HP:0000179)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
Gene: DYRK1A
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: 21q22.13q22.2 microdeletion syndrome; Del(21)(q22.13q22.2); Monosomy 21q22.13q22.2; DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (ORPHA:268261)
Gene: DYRK1A
Phenotype: Unilateral renal agenesis (HP:0000122)
Associated disease: DYRK1A-related intellectual disability syndrome due to a point mutation; Intellectual disability syndrome due to a DYRK1A point mutation (ORPHA:464311)
Gene: DYRK1A
Phenotype: Abnormality of the genitourinary system (HP:0000119)
Associated disease: 21q22.13q22.2 microdeletion syndrome; Del(21)(q22.13q22.2); Monosomy 21q22.13q22.2; DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (ORPHA:268261)
Gene: DYRK1A
Phenotype: Pelvic kidney (HP:0000125)
Associated disease: DYRK1A-related intellectual disability syndrome due to a point mutation; Intellectual disability syndrome due to a DYRK1A point mutation (ORPHA:464311)
Gene: DYRK1A
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: DYRK1A-related intellectual disability syndrome due to a point mutation; Intellectual disability syndrome due to a DYRK1A point mutation (ORPHA:464311)
Gene: DYRK1A
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
Gene: DYRK1A
Phenotype: Renal cyst (HP:0000107)
Associated disease: DYRK1A-related intellectual disability syndrome due to a point mutation; Intellectual disability syndrome due to a DYRK1A point mutation (ORPHA:464311)
Gene: DYRK1A
Phenotype: Recurrent infections (HP:0002719)
Associated disease: DYRK1A-related intellectual disability syndrome due to a point mutation; Intellectual disability syndrome due to a DYRK1A point mutation (ORPHA:464311)
Gene: DYRK1A
Phenotype: Recurrent infections (HP:0002719)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
Gene: DYRK1A
Phenotype: Downturned corners of mouth (HP:0002714)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
Gene: DYRK1A
Phenotype: Pyloric stenosis (HP:0002021)
Associated disease: 21q22.13q22.2 microdeletion syndrome; Del(21)(q22.13q22.2); Monosomy 21q22.13q22.2; DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (ORPHA:268261)
Gene: DYRK1A
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: DYRK1A-related intellectual disability syndrome due to a point mutation; Intellectual disability syndrome due to a DYRK1A point mutation (ORPHA:464311)
Gene: DYRK1A
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: 21q22.13q22.2 microdeletion syndrome; Del(21)(q22.13q22.2); Monosomy 21q22.13q22.2; DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (ORPHA:268261)
Gene: DYRK1A
Phenotype: Constipation (HP:0002019)
Associated disease: 21q22.13q22.2 microdeletion syndrome; Del(21)(q22.13q22.2); Monosomy 21q22.13q22.2; DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (ORPHA:268261)
Gene: DYRK1A
Phenotype: Poor suck (HP:0002033)
Associated disease: 21q22.13q22.2 microdeletion syndrome; Del(21)(q22.13q22.2); Monosomy 21q22.13q22.2; DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (ORPHA:268261)
Gene: DYRK1A
Phenotype: Dysphagia (HP:0002015)
Associated disease: 21q22.13q22.2 microdeletion syndrome; Del(21)(q22.13q22.2); Monosomy 21q22.13q22.2; DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (ORPHA:268261)
Gene: DYRK1A
Phenotype: Vomiting (HP:0002013)
Associated disease: DYRK1A-related intellectual disability syndrome due to a point mutation; Intellectual disability syndrome due to a DYRK1A point mutation (ORPHA:464311)
Gene: DYRK1A
Phenotype: Abnormality of the cervical spine (HP:0003319)
Associated disease: DYRK1A-related intellectual disability syndrome due to a point mutation; Intellectual disability syndrome due to a DYRK1A point mutation (ORPHA:464311)
Gene: DYRK1A
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: 21q22.13q22.2 microdeletion syndrome; Del(21)(q22.13q22.2); Monosomy 21q22.13q22.2; DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (ORPHA:268261)
Gene: DYRK1A
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
Gene: DYRK1A
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: DYRK1A-related intellectual disability syndrome due to a point mutation; Intellectual disability syndrome due to a DYRK1A point mutation (ORPHA:464311)
Gene: DYRK1A
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: 21q22.13q22.2 microdeletion syndrome; Del(21)(q22.13q22.2); Monosomy 21q22.13q22.2; DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (ORPHA:268261)
Gene: DYRK1A
Phenotype: Polydactyly (HP:0010442)
Associated disease: 21q22.13q22.2 microdeletion syndrome; Del(21)(q22.13q22.2); Monosomy 21q22.13q22.2; DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (ORPHA:268261)
Gene: DYRK1A
Phenotype: Posterior pituitary hypoplasia (HP:0011757)
Associated disease: DYRK1A-related intellectual disability syndrome due to a point mutation; Intellectual disability syndrome due to a DYRK1A point mutation (ORPHA:464311)
Gene: DYRK1A
Phenotype: Posterior pituitary hypoplasia (HP:0011757)
Associated disease: 21q22.13q22.2 microdeletion syndrome; Del(21)(q22.13q22.2); Monosomy 21q22.13q22.2; DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (ORPHA:268261)
Gene: DYRK1A
Phenotype: Generalized myoclonic seizure (HP:0002123)
Associated disease: 21q22.13q22.2 microdeletion syndrome; Del(21)(q22.13q22.2); Monosomy 21q22.13q22.2; DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (ORPHA:268261)
Gene: DYRK1A
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: DYRK1A-related intellectual disability syndrome due to a point mutation; Intellectual disability syndrome due to a DYRK1A point mutation (ORPHA:464311)
Gene: DYRK1A
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: 21q22.13q22.2 microdeletion syndrome; Del(21)(q22.13q22.2); Monosomy 21q22.13q22.2; DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (ORPHA:268261)
Gene: DYRK1A
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
Gene: DYRK1A
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: DYRK1A-related intellectual disability syndrome due to a point mutation; Intellectual disability syndrome due to a DYRK1A point mutation (ORPHA:464311)
Gene: DYRK1A
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: 21q22.13q22.2 microdeletion syndrome; Del(21)(q22.13q22.2); Monosomy 21q22.13q22.2; DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (ORPHA:268261)
Gene: DYRK1A
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
Gene: DYRK1A
Phenotype: Broad-based gait (HP:0002136)
Associated disease: 21q22.13q22.2 microdeletion syndrome; Del(21)(q22.13q22.2); Monosomy 21q22.13q22.2; DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (ORPHA:268261)
Gene: DYRK1A
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: 21q22.13q22.2 microdeletion syndrome; Del(21)(q22.13q22.2); Monosomy 21q22.13q22.2; DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (ORPHA:268261)
Gene: DYRK1A
Phenotype: Short 5th toe (HP:0011917)
Associated disease: 21q22.13q22.2 microdeletion syndrome; Del(21)(q22.13q22.2); Monosomy 21q22.13q22.2; DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (ORPHA:268261)
Gene: DYRK1A
Phenotype: Gliosis (HP:0002171)
Associated disease: 21q22.13q22.2 microdeletion syndrome; Del(21)(q22.13q22.2); Monosomy 21q22.13q22.2; DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (ORPHA:268261)
Gene: DYRK1A
Phenotype: Broad chin (HP:0011822)
Associated disease: 21q22.13q22.2 microdeletion syndrome; Del(21)(q22.13q22.2); Monosomy 21q22.13q22.2; DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (ORPHA:268261)
Gene: DYRK1A
Phenotype: Infantile onset (HP:0003593)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
Gene: DYRK1A
Phenotype: Abnormality of neuronal migration (HP:0002269)
Associated disease: DYRK1A-related intellectual disability syndrome due to a point mutation; Intellectual disability syndrome due to a DYRK1A point mutation (ORPHA:464311)
Gene: DYRK1A
Phenotype: Congenital onset (HP:0003577)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
Gene: DYRK1A
Phenotype: Tongue thrusting (HP:0100703)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
Gene: DYRK1A
Phenotype: Duodenal atresia (HP:0002247)
Associated disease: DYRK1A-related intellectual disability syndrome due to a point mutation; Intellectual disability syndrome due to a DYRK1A point mutation (ORPHA:464311)
Gene: DYRK1A
Phenotype: Birth length less than 3rd percentile (HP:0003561)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
Gene: DYRK1A
Phenotype: Birth length less than 3rd percentile (HP:0003561)
Associated disease: DYRK1A-related intellectual disability syndrome due to a point mutation; Intellectual disability syndrome due to a DYRK1A point mutation (ORPHA:464311)
Gene: DYRK1A
Phenotype: Breast aplasia (HP:0100783)
Associated disease: 21q22.13q22.2 microdeletion syndrome; Del(21)(q22.13q22.2); Monosomy 21q22.13q22.2; DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion (ORPHA:268261)
Gene: DYRK1A
Phenotype: Enlarged cisterna magna (HP:0002280)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
Gene: DYRK1A
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: DYRK1A-related intellectual disability syndrome due to a point mutation; Intellectual disability syndrome due to a DYRK1A point mutation (ORPHA:464311)
Gene: DYRK1A
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: DYRK1A-related intellectual disability syndrome due to a point mutation; Intellectual disability syndrome due to a DYRK1A point mutation (ORPHA:464311)