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Table 1 Main clinical and imaging features of ADSL and of the patient

From: A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencing

Main clinical and imaging features of ADSL Patient features
- Growth retardation -
Head and Face
 - Brachycephaly -
 - Microcephaly -
 - Prominent metopic suture -
 - Thin upper lip -
 - Long smooth philtrum -
 - Low-set ears -
 - Strabismus -
 - Nystagmus -
Neurologic
 Central Nervous System
  - Psychomotor delay, +
  - Mental retardation Mild
  - Hypotonia -
  - Gait ataxia First two years of life
  - Inability to walk -
  - Poor eye contact +
  - Poor language and speech development + partially controlled
  - Seizures -
  - Spasticity -
  - Opisthotonus -
  - Myoclonus -
  - Brisk reflexes -
  - Cerebral atrophy -
  - Cerebellar atrophy -
  - Hypomyelination -
  - Atrophy of corpus callosum -
  -
Behavioral Psychiatric Manifestations
 - Autistic features +/−
 - Hyperactivity -
 - Aggressive behavior -
 - Temper tantrums -
 - Stereotypic movements +
 - Self-mutilation -
 - Happy demeanor +
 - Inappropriate laughter -