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Table 1 Comparison of phenotypic features of the index patients with those described in other patients with Warburg micro syndrome 1–3 and Martsolf syndrome

From: Large homozygous RAB3GAP1 gene microdeletion causes Warburg Micro Syndrome 1

Characteristics and symptoms HPO ID Patient Patient WARBM1 WARBM2 WARBM3 MS
Pedigree ID   II.1 II.2     
Gender   Female Male     
Age at last assessment (years)   5.9 4.5     
Growth
Short stature 0004322 + + + + + +
Postnatal failure to thrive 0001508 + + + + + +
Growth hormone deficiency 0000824 + + NR NR NR +
Head and neck
Postnatal microcephaly 0000252 + + + + + (+)
Micrognathia 0000347 + - + - - +
Large ears 0000400 - + + + - -
Microphthalmia 0000568 + + + + + +
Microcornea 0000482 + + + + + +
Congenital cataract 0000519 + + + + + +
Ptosis 0000508 - - (+) - - -
Nystagmus 0000639 - - (+) - - -
Epicanthal folds 0000286 - - - - - +
Genitourinary
Cryptorchism 0086889 NA + + + + +
Hypogenitalism 0003241 - + + + + +
Skeletal
Osteoporosis 0000939 ++ ++ NR NR NR NR
Kyphoscoliosis 0002751 + + + NR + +
Joint hypermobility 0001382 - - (+) - - -
Joint contractures 0002803 + + + + + -
Foot deformities 0001760 - - + + - +
Hair
Facial hypertrichosis 0002219 + + + - - -
Neurologic
Intellectual deficit 0001249 ++ ++ ++ ++ ++ +
Optic atrophy 0000658 + + + + + -
Hyperreflexia 0007034 + + + + + +
Muscular hypotonia 0001290 + + + + + +
Spastic diplegia 0001264 + + + + + (+)
Seizures 0001250 - - + - + -
Inability to walk 0002540 + + + + + (+)
Absent speech 0001344 + + + (+) + (+)
Cranial MRI
Abnormal corpus callosum 0001273 + + + + + (+)
Cerebral atrophy 0002059 - - + (+) + (+)
Cerebral malformations 0007319 - - + - - -
Polymicrogyria 0002126 - - + (+) + (+)
Pachygyria 0001302 + + + - - -
Enlarged sylvian fissures 0100952 + + + - + (+)
Cerebellar hypoplasia 0001321 + + + (+) + -
Dysmyelination 0007266 - - + (+) + -
Cardiovascular
Cardiomyopathy 0001638 - - NR NR NR +
Cardiac failure 0001635 - - NR NR NR +
Respiratory
Recurrent infections 0002205 - - NR NR NR +
  1. All symptoms are listed according to the nomenclature and the systematics of the OMIM “Clinical Synopsis” and the Human Phenotype Ontology (HPO [14]). Abbreviations: +, present; -, not present; (+) mild or rare; ++, severe; NA, not applicable; NR, not reported; HPO, human phenotype ontology; WARBM1-3, Warburg micro syndrome 1–3; MS, Martsolf syndrome.