Medicine and Dentistry
Advanced Life Support
9%
Ataxia
6%
Autosome
9%
Brain Abnormalities
13%
Brain Malformation
9%
Bronchomalacia
6%
Chromosome 6
81%
Chromosome Aberration
18%
Chromosome Disorder
7%
Clinician
24%
Congenital Disorder
13%
Congenital Heart Defect
18%
Corpus Callosum
15%
Cortical Dysplasia
6%
Developmental Delay
31%
Disease
7%
Dysmorphic Feature
9%
Epileptic Seizure
12%
Eye Movement
9%
Eye Movement Disorder
6%
Feeding Difficulty
6%
Female Genitalia
6%
Foot Malformation
12%
Gastroesophageal Reflux
6%
Gastrointestinal Distress
9%
Haploinsufficiency
9%
Hearing Impairment
9%
Hernia
6%
Hydrocephalus
6%
Hyperactivity
6%
Hypertelorism
6%
Hypotonia
15%
Identified Patient
18%
Joint Laxity
6%
KCNQ5
6%
Microcephaly
6%
Muscle Hypertonia
6%
Outer Ear
6%
Pervasive Developmental Disorder
6%
Rare Disease
7%
Recurrent Infection
6%
Respiratory Tract Infection
6%
Scoliosis
6%
Sleep
6%
Sleep Disorder
9%
Social Media
60%
Spinal Dysraphism
6%
Torticollis
6%
Ventriculomegaly
6%
Vertebra
6%
Biochemistry, Genetics and Molecular Biology
Autosome
9%
Body Height
18%
Chromosomal Disorder
7%
Chromosome 6
100%
Dysplasia
6%
Ephrin Receptor
18%
Exome Sequencing
6%
Eye Movement
15%
Haploinsufficiency
40%
KCNQ5
18%
MAP3K7
18%
Microarrays
28%
Patient Participation
5%
Sleep
6%
Keyphrases
6p25 Deletion
20%
Akirin2
6%
BAI3
6%
Bronchomalacia
6%
Chromosomal Aberrations
18%
Chromosome 6
18%
COL12A1
6%
Ephrin Receptors
18%
Haploinsufficiency
18%
Influential Genes
6%
KCNQ5
6%
Neurodevelopmental Disorders
18%
Neurodevelopmental Phenotypes
6%
Parent-reported Outcomes
18%
Phenotypic Spectrum
18%
TAB2
20%
