Disease features |
intellectual disability (HP:0001249),neurodevelopmental delay (HP:0012758), abnormality of the musculoskele tal system (HP:0033127), seizure (HP:0001250), abnormal facial shape (HP:0001999), brain imaging abnormality (HP:0410263), abnormality of the genitourinary system (HP:0000119), microcephaly (HP:0000252), hearing impairment (HP:0000365), failure to thrive (HP:0001508), abnormal heart morphology (HP:0001627), autistic behavior (HP:0000729) |