Table 1. Clinical Presentations of Pathogenic DOCK Variants.
Clinical symptoms as reported by ClinVar for each pathogenic DOCK variant and their respective categorization in Figure 5 are listed.
| Development | |
|---|---|
| DOCKs Presenting | |
| abnormal facial shape | DOCK1, DOCK2, DOCK3, DOCK4, DOCK5, DOCK7, DOCK8, DOCK9, DOCK10, DOCK11 |
| abnormality of limb and bone morphology | DOCK5 |
| abnormality of the ear | DOCK1, DOCK2, DOCK4, DOCK5, DOCK7, DOCK8, DOCK9, DOCK10, DOCK11 |
| abnormality of the skull | DOCK4 |
| abnormality of the vertebrae | DOCK5, DOCK11 |
| Adams‐Oliver Syndrome | DOCK6 |
| Adams‐Oliver Syndrome 2 | DOCK6 |
| agenesis of the corpus callosum | DOCK1, DOCK5, DOCK8, DOCK9 |
| ambiguous genitalia | DOCK4, DOCK8, DOCK11 |
| Arnold‐Chiari malformations | DOCK5, DOCK8 |
| bilateral hyperplasia of choroid plexus | DOCK8 |
| bilateral single tranverse palmar creases | DOCK5, DOCK9 |
| blepharophimosis | DOCK8, DOCK11 |
| camptodactyly | DOCK2 |
| cerebellar hypoplasia | DOCK8 |
| cerebral white matter hypoplasia | DOCK1 |
| cleft palate | DOCK1, DOCK2, DOCK4, DOCK5, DOCK8, DOCK9, DOCK10, DOCK11 |
| clinodactyly | DOCK8, DOCK10 |
| coarse facial features | DOCK2, DOCK10 |
| coloboma | DOCK2, DOCK5, DOCK8, DOCK9, DOCK10 |
| craniosynostosis | DOCK2, DOCK8, DOCK11 |
| cryptorchidism | DOCK1, DOCK5, DOCK8, DOCK10, |
| Dandy‐Walker malformation | DOCK9 |
| delayed fine motor development | DOCK1, DOCK2, DOCK5, DOCK8, DOCK9, DOCK11 |
| delayed gross motor development | DOCK1, DOCK2, DOCK4, DOCK5, DOCK8, DOCK9 |
| delayed speech and language development | DOCK1, DOCK4, DOCK5, DOCK8, DOCK9, DOCK10, DOCK11 |
| developmental delay | DOCK1, DOCK2, DOCK3, DOCK4, DOCK5, DOCK6, DOCK7, DOCK8, DOCK9, DOCK10, DOCK11 |
| distal urethral duplication | DOCK1 |
| dolichocephaly | DOCK2, DOCK8 |
| dysmorphic features | DOCK2, DOCK3 |
| esotropia | DOCK9 |
| failure to thrive | DOCK5, DOCK6, DOCK8, DOCK9, DOCK10, DOCK11 |
| fetal cystic hygroma | DOCK1 |
| gastroesophageal reflux | DOCK2 |
| genu recurvatum | DOCK8 |
| global developmental delay | DOCK1, DOCK2, DOCK3, DOCK4, DOCK5, DOCK6, DOCK7, DOCK8, DOCK9, DOCK11 |
| gonadal dysgenesis | DOCK11 |
| holoprosencephaly | DOCK2, DOCK9, DOCK11 |
| hydrocephaly | DOCK8 |
| hydroureter | DOCK5 |
| hypertelorism | DOCK9, DOCK11 |
| hypospadias | DOCK10 |
| hypotelorism | DOCK1 |
| increased nuchal translucency | DOCK5, DOCK8, DOCK11 |
| intrauterine growth retardation | DOCK1, DOCK2, DOCK3, DOCK4, DOCK5, DOCK7, DOCK8, DOCK9, DOCK10, DOCK11 |
| macrocephaly | DOCK2, DOCK8, DOCK9, DOCK11 |
| microcephaly | DOCK1, DOCK5, DOCK8, DOCK9, DOCK11 |
| microglossia | DOCK2 |
| micrognathia | DOCK1, DOCK2, DOCK3, DOCK4, DOCK5, DOCK7, DOCK8, DOCK9, DOCK10, DOCK11 |
| micropenis | DOCK1, DOCK8 |
| multiple congenital anomalies | DOCK1 |
| nevus flammeus | DOCK9 |
| omphalocele | DOCK8, DOCK9 |
| Pierre‐Robin sequence | DOCK2 |
| platybasia | DOCK5 |
| polydactyly | DOCK1, DOCK2, DOCK4, DOCK5, DOCK7, DOCK8, DOCK9, DOCK10, DOCK11 |
| ptosis | DOCK11 |
| csoliosis | DOCK2, DOCK5, DOCK8, DOCK10, DOCK11 |
| short stature | DOCK2, DOCK3, DOCK4, DOCK5, DOCK7, DOCK8, DOCK9, DOCK10, DOCK11 |
| smooth philtrum | DOCK1, DOCK9 |
| strabismus | DOCK1 |
| syndactyly | DOCK1, DOCK2, DOCK3, DOCK4, DOCK5, DOCK7, DOCK8, DOCK9, DOCK10, DOCK11 |
| talipes equinovarus | DOCK8, DOCK9, DOCK11 |
| tapered fingers | DOCK5 |
| tracheomalachia | DOCK8 |
| trigonocephaly | DOCK8 |
| urinary tract malformations | DOCK7 |
| ventriculomegaly | DOCK8, DOCK9, |
| vitiligo | DOCK5 |
| wide nasal bridge | DOCK5, DOCK8, DOCK9, DOCK10, DOCK11 |
| Cardiovascular | |
| DOCKs Presenting | |
| abnormality of cardiac morphology | DOCK5, DOCK8, DOCK11 |
| abnormality of the fetal cardiovascular system | DOCK5 |
| aortic valve stenosis | DOCK11 |
| atria septal defect | DOCK4, DOCK5, DOCK8, DOCK9, DOCK10, DOCK11 |
| bicuspid aortic valve | DOCK8 |
| coarctation of the aorta | DOCK8, DOCK9, DOCK10 |
| esophageal atresia | DOCK8, DOCK11 |
| heart murmur | DOCK8 |
| hypertrophic cardiomyopathy | DOCK11 |
| hypoplastic aortic arch | DOCK9 |
| hypoplastic left heart | DOCK5, DOCK8, DOCK11 |
| mitral valve prolapse | DOCK1 |
| obsolete malformation of the heart and great vessels | DOCK1, DOCK2, DOCK4, DOCK5, DOCK7, DOCK8, DOCK9, DOCK10, DOCK11 |
| patent ductus arteriosis | DOCK1, DOCK2, DOCK8, DOCK11 |
| pericardial effusion | DOCK5 |
| pulmonic stenosis | DOCK8 |
| right bundle branch block | DOCK1 |
| supraventricular tachycardia | DOCK2 |
| tetrology of Fallot | DOCK8, DOCK9, DOCK10 |
| ventricular septal defect | DOCK1, DOCK2, DOCK3, DOCK4, DOCK5, DOCK7, DOCK8, DOCK9, DOCK10, DOCK11 |
| Cognitive Behavioral | |
| DOCKs Presenting | |
| ADHD | DOCK1, DOCK8 |
| aggressive behavior | DOCK1 |
| anxiety | DOCK8 |
| autistic behavior | DOCK1, DOCK5, DOCK8, DOCK10, DOCK11 |
| bipolar affective disorder | DOCK9, DOCK11 |
| intellectual disability | DOCK1, DOCK2, DOCK5, DOCK7, DOCK8, DOCK9, DOCK10, DOCK11 |
| learning disability | DOCK5, DOCK8, DOCK11 |
| polyphagia | DOCK11 |
| schizophrenia | DOCK11 |
| Nervous System Disorder | |
| DOCKs Presenting | |
| bilateral sensorineural hearing impairment | DOCK9, DOCK11 |
| cerebral palsy | DOCK1, |
| encephalopathy | DOCK2, DOCK11 |
| epileptic encephalopathy | DOCK7 |
| seizures | DOCK1, DOCK5, DOCK6, DOCK8, DOCK9, DOCK11 |
| Immune System | |
| DOCKs Presenting | |
| hyper‐IgE recurrent infection sydrome, autosomal recessive | DOCK8 |
| hypogammaglobulinemia | DOCK10 |
| immunodeficiency | DOCK2, DOCK8 |
| Metabolic | |
| DOCKs Presenting | |
| familial hypercholesterolemia 1 | DOCK6 |
| hypobetalipoproteinemia, familial, 2 | DOCK7 |
| Neuromuscular | |
| DOCKs Presenting | |
| ataxia | DOCK1, DOCK3 |
| dystonia | DOCK1, |
| flexion contracture | DOCK4, DOCK5, DOCK10 |
| gait ataxia | DOCK1, |
| gait disturbance | DOCK8, DOCK11 |
| generalized amyotrophy | DOCK5 |
| hypotonia | DOCK3, DOCK4, DOCK5, DOCK7, DOCK8, DOCK9, DOCK10, DOCK11 |
| iIncoordination | DOCK5, DOCK11 |
| involuntary movements | DOCK4 |
| severe neonatal hypotonia in males | DOCK5 |
| spasticity | DOCK2, DOCK8, DOCK11 |
| torticollis | DOCK5 |