DDX59

Clinical Characteristics

The clinical features of this disease, per organ system, include:

HEAD & NECK

Head:

  • Microcephaly

Face:

  • Frontal bossing
  • Hypertelorism
  • Malocclusion
  • High arched palate
  • Low-set ears

Eyes:

  • Hypertelorism
  • Hypertropia (rare)
  • Pseudoptosis
  • Dysplastic optic disc
  • Abnormal eye movements

Mouth:

  • Tongue lobulation
  • Tongue hamartoma
  • Cleft palate
  • Cleft lip
  • Bifid uvula
  • Multiple oral frenula

CARDIOVASCULAR

Heart

  • Tetralogy of Fallot (rare) Ventricular septal defect (rare)

GASTROINTESTINAL

  • Hirschsprung disease (rare)

GENITOURINARY

Kidneys

  • Fused kidneys (rare)

SKELETAL

Spine

  • Scoliosis (rare)

Hands

  • Postaxial polydactyly
  • Camptodactyly
  • Clinodactyly
  • Syndactyly

Feet

  • Postaxial polydactyly

NEUROLOGIC

Central Nervous System

  • Intellectual disability
  • Global developmental delay
  • Early-onset Seizures
  • Hypotonia
  • Thinning of cerebral cortex in front of the ventricular collateral trigone
  • Signal abnormalities in the subcortical and deep white matter of the cerebral hemispheres
  • Cerebellar vermis hypoplasia (rare)
  • Ataxia
  • Hearing loss
  • Asymmetric dilation of lateral ventricles (rare)
  • Agenesis of the corpus callosum (in some patients)