TaoMedAI/RareMedData huggingface dataset:
Gene: DYRK1A
Phenotype: Feeding difficulties (HP:0011968)
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 (HP:0011968)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
Gene: DYRK1A
Phenotype: Hypoplasia of the brainstem (HP:0002365)
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 brainstem morphology (HP:0002363)
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: Sleep abnormality (HP:0002360)
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: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
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: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
Gene: DYRK1A
Phenotype: Atonic seizure (HP:0010819)
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: Incoordination (HP:0002311)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
Gene: DYRK1A
Phenotype: Clinodactyly of the 5th finger (HP:0004209)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: DYRK1A
Phenotype: Amblyopia (HP:0000646)
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: Optic atrophy (HP:0000648)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
Gene: DYRK1A
Phenotype: Iris coloboma (HP:0000612)
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: Hypotelorism (HP:0000601)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
Gene: DYRK1A
Phenotype: Severe global developmental delay (HP:0011344)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
Gene: DYRK1A
Phenotype: Widely spaced teeth (HP:0000687)
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: Widely spaced teeth (HP:0000687)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
Gene: DYRK1A
Phenotype: Abnormal facial shape (HP:0001999)
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: Abnormal facial shape (HP:0001999)
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 stature (HP:0004322)
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 stature (HP:0004322)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
Gene: DYRK1A
Phenotype: Hyperactivity (HP:0000752)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
Gene: DYRK1A
Phenotype: Pectus excavatum (HP:0000767)
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: Pectus excavatum (HP:0000767)
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: Pectus excavatum (HP:0000767)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
Gene: DYRK1A
Phenotype: Anxiety (HP:0000739)
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: Anxiety (HP:0000739)
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 stereotypy (HP:0000733)
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: Motor stereotypy (HP:0000733)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
Gene: DYRK1A
Phenotype: Delayed speech and language development (HP:0000750)
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: Delayed speech and language development (HP:0000750)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
Gene: DYRK1A
Phenotype: Inappropriate laughter (HP:0000748)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
Gene: DYRK1A
Phenotype: Aggressive behavior (HP:0000718)
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: Autism (HP:0000717)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
Gene: DYRK1A
Phenotype: Autistic behavior (HP:0000729)
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: Autistic behavior (HP:0000729)
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: Atypical behavior (HP:0000708)
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: Nasogastric tube feeding in infancy (HP:0011470)
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: Flexion contracture of finger (HP:0012785)
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: Primary microcephaly (HP:0011451)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
Gene: DYRK1A
Phenotype: Abnormal axial skeleton morphology (HP:0009121)
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: 2-4 toe cutaneous syndactyly (HP:0005768)
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 nose (HP:0003196)
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: Preauricular pit (HP:0004467)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: DYRK1A
Phenotype: Abnormality of the endocrine system (HP:0000818)
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: Hypothyroidism (HP:0000821)
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: Decreased response to growth hormone stimulation test (HP:0000824)
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: Happy demeanor (HP:0040082)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
Gene: DYRK1A
Phenotype: Premature thelarche (HP:0010314)
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: Sacral dimple (HP:0000960)
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: Sacral dimple (HP:0000960)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
Gene: DYRK1A
Phenotype: Osteochondrosis (HP:0040188)
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: Retrognathia (HP:0000278)
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: Long face (HP:0000276)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
Gene: DYRK1A
Phenotype: Prominent occiput (HP:0000269)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
Gene: DYRK1A
Phenotype: Ankle flexion contracture (HP:0006466)
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: Kyphosis (HP:0002808)
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: Kyphosis (HP:0002808)
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: Microcephaly (HP:0000252)
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: Microcephaly (HP:0000252)
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: Microcephaly (HP:0000252)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
Gene: DYRK1A
Phenotype: Thin upper lip vermilion (HP:0000219)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
Gene: DYRK1A
Phenotype: Oligohydramnios (HP:0001562)
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: Oligohydramnios (HP:0001562)
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: Polyhydramnios (HP:0001561)
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: Failure to thrive in infancy (HP:0001531)
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: Failure to thrive in infancy (HP:0001531)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
Gene: DYRK1A
Phenotype: Failure to thrive (HP:0001508)
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: Small for gestational age (HP:0001518)
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: Small for gestational age (HP:0001518)
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: Small for gestational age (HP:0001518)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
Gene: DYRK1A
Phenotype: Intrauterine growth retardation (HP:0001511)
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: Intrauterine growth retardation (HP:0001511)
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: Intrauterine growth retardation (HP:0001511)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
Gene: DYRK1A
Phenotype: Supernumerary tooth (HP:0011069)
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: Thickened helices (HP:0000391)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
Gene: DYRK1A
Phenotype: Hearing impairment (HP:0000365)
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: Low-set ears (HP:0000369)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
Gene: DYRK1A
Phenotype: Narrow forehead (HP:0000341)
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: Narrow forehead (HP:0000341)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
Gene: DYRK1A
Phenotype: Broad forehead (HP:0000337)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: DYRK1A
Phenotype: Micrognathia (HP:0000347)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
Gene: DYRK1A
Phenotype: Aortic valve stenosis (HP:0001650)
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: Aortic valve stenosis (HP:0001650)
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: Smooth philtrum (HP:0000319)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
Gene: DYRK1A
Phenotype: Patent ductus arteriosus (HP:0001643)
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: Patent ductus arteriosus (HP:0001643)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
Gene: DYRK1A
Phenotype: Aortic regurgitation (HP:0001659)
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: Aortic regurgitation (HP:0001659)
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: Ventricular septal defect (HP:0001629)
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: Ventricular septal defect (HP:0001629)
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 heart morphology (HP:0001627)
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 pulmonary valve morphology (HP:0001641)
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: Tetralogy of Fallot (HP:0001636)
Associated disease: TETRALOGY OF FALLOT (OMIM:187500)
Gene: DYRK1A
Phenotype: Corneal opacity (HP:0007957)
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: Simple febrile seizure (HP:0011171)
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: Typical absence seizure (HP:0011147)
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: Recurrent otitis media (HP:0000403)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
Gene: DYRK1A
Phenotype: Macrotia (HP:0000400)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
Gene: DYRK1A
Phenotype: Astigmatism (HP:0000483)
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: Astigmatism (HP:0000483)
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: Strabismus (HP:0000486)
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: Strabismus (HP:0000486)
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: Abnormality of the eye (HP:0000478)
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: Downslanted palpebral fissures (HP:0000494)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
Gene: DYRK1A
Phenotype: Deeply set eye (HP:0000490)
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: Deeply set eye (HP:0000490)
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: Deeply set eye (HP:0000490)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
Gene: DYRK1A
Phenotype: Broad nasal tip (HP:0000455)
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 foot (HP:0001773)
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: Abnormal toe morphology (HP:0001780)
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: Bulbous nose (HP:0000414)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 7 (OMIM:614104)
Gene: DYRK1A
Phenotype: Protruding ear (HP:0000411)
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: Protruding ear (HP:0000411)
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 foot morphology (HP:0001760)
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: Underdeveloped nasal alae (HP:0000430)
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: Prominent nasal bridge (HP:0000426)
Associated disease: DYRK1A-related intellectual disability syndrome due to a point mutation; Intellectual disability syndrome due to a DYRK1A point mutation (ORPHA:464311)