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Table 1 summary of the important clinical features of the patients. All clinical features are compared to the different types of Warburg Micro Syndrome (WARBM) and Martsolf syndrome

From: Novel manifestations of Warburg micro syndrome type 1 caused by a new splicing variant of RAB3GAP1: a case report

Group Subgroup Clinical Feature III.1 III.4 WARBM1 WARBM2 WARBM3 WARBM4 Martsolf syndrome
aGe at examination Age (year) 5 4.5
Intellectual disabilitya STP STP STP S STP S MTS
Growth Height Short stature NR NR + + + + +
Height less than 5th percentile + + + + +
postnatal growth retardation + + + + + +
Weight abnormal Weight +
Head & neck Head Brachycephaly + + + +
Microcephaly + + + + + + +
Face Micrognathia + + + + +
Abnormal philtrum + + + +
Ears Prominent antitragus + + +
Posteriorly rotated ears +
Large ears + + + + + +
Eyes Cataracts + + + + + + +
Epicanthal folds +
Downslanting palpebral fissures +
Microphthalmia + + + + + +
Microcornea NR NR + + + +
Optic atrophy + + + +
Ptosis + + + +
Deep-set eyes + +
Atonic pupils + +
Nystagmus +
Nose Short-nose + + + +
prominent nasal root + + + + +
Wide nasal bridge + +
Mouth High palate +
Downturned corners of the mouth + +
soft cleft palate + +
Teeth Malaligned teeth + +
Prominent secondary alveolar ridges +
Cardiovascular Heart Cardiomyopathy +
Cardiac Failure +
Respiratory Infection Recurrent respiratory infections +
Airway Tracheomalacia +
Chest Breasts Prominent nipples +
  Widely spaced nipples +
Ribs Pectus carinatum/ excavatum +
Abdomen Gastrointestinal Feeding problems NR NR +
Genitourinary Male Small penis ND + + +
Hypogenitalism + + + + + +
Scrotal hypoplasia/ Small testes ND + + +
Cryptorchidism ND + + + +
Female Hypoplasia of labia majora + + +
Skeletal Limbs Contractures + + +
Distal limb contractures +
Joint hypermobility +
Hands Finger joint laxity +
Joint hypermobility +
Cortical thumbs + +
Feet Deformities of metatarsal bones +
Overlapping toes + + + +
Skin, nails, & hair Nails Abnormal nails +
Hair Facial hypertrichosis + + +
Low anterior hairline + + + + +
Hypertrichosis of upper back + + +
Neurologic Central and peripheral Nervous Systems Severe intellectual disability + + + + + + +
Truncal hypotonia NR NR +
Hyperreflexia NR NR +
Limbs hypotonia + + +
Axial hypotonia + + + +
White matter signal changes + +
Spastic diplegia to quadriplegia + + + + +
Increased deep tendon responses +
Ankle clonus +
Neuroimaging Findings Cerebral malformations + + + +
Hypoplasia of the corpus callosum + + + + +
Agenesis of the corpus callosum + + +
Cerebellar hypoplasia + + + +
Wide Sylvian fissures + + +
Increased subdural space + + +
Enlarged ventricles + + + +
Pachygyria + + +  
Polymicrogyria + + +
Mega cisterna Magna +
  1. Abbreviations: STP severe-to-profound intellectual disability, S severe, MTS moderate-to-severe intellectual disability, NR Not Reported or detected at the age of examination, ND Not defined or not-appropriate value for the specific gender
  2. aThe intelligence quotient (IQ) scores were used to classified the intellectual disability (ID) into mild (IQ 50/55 to 70), moderate (35/40 to 50/55), severe (20/25 to 35/40), and profound (< 25)