Large homozygous RAB3GAP1 gene microdeletion causes Warburg Micro Syndrome 1

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

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	+

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.

ISSN: 1750-1172