Disease #00126 (DEND (Developmental Delay, Epilepsy and Neonatal Diabetes Syndrome))

Official abbreviation DEND
Name Developmental Delay, Epilepsy and Neonatal Diabetes Syndrome
OMIM ID -
Inheritance -
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene KCNJ11
Associated tissues -
Disease features -
Remarks -


Individuals

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00000656 Muhd Alwi Muhd Helmi et al.(2020) M Malaysia Malay - - - DEND birth weight 2500g (below 10th percentile), head circumference of 31cm (below 3rd percentile) and length of 50cm (at 50th percentile), has facial dysmorphism with low set ears, micrognatia, short neck, and triangular mouth with thin lips KCNJ11 KCNJ11 1 1 Nur Aisyah Athirah
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