Infantile onset diabetes mellitus in developing countries - India

Table 1 Diagnostic clues for type of mutation in infantile onset diabetes mellitus

Associated features	Diagnostic possibility of mutation
Umbilical hernia, macroglossia	6q 24
Developmental delay	KCNJ11, ABCC8, EIF2AK3
Microcephaly	PTF 1A
Hypothyroidism	EIF2AK3, GLIS 3, FOXP3
Diarrhea, eczema	IPEX
Anemia	EIF2AK3, SLC19A2
Hepatomegaly with liver dysfunction	EIF2AK3
Cerebellar hypoplasia	PTF1A, NEUROD 1
Pancreatic hypoplasia	RFX 6, HNF1B, PTF1A, GATA6
Ocular manifestations	PAX 6
Rickets, round facies, mild hyperglycemia	SLC2A2
No syndromic features	KCNJ11, ABCC8, INS
Renal abnormalities	GLIS3, HNF1B
Hirsutism, failure to thrive	Insulin resistance syndromes

KCNJ11: Potassium channel subfamily J member 11; ABCC8: ATP binding cassette transporter subfamily C, member 8; EIF2AK3: Eukaryotic translation initiation factor 2 alpha kinase 3; PTF: Pancreatic transcription factor; GLIS3: GLI subfamily of Kruppel-like zinc finger protein-3; SLC2A2: Solute carrier 2 family 2 gene; INS: Insulin.