Disease ID | Source | Name | Description |
613320 | OMIM | Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type (SMDMDM) | An autosomal recessive disease characterized by pre- and postnatal short stature, developmental delay, dysmorphic facial appearance, narrow chest, prominent abdomen, platyspondyly, and short limbs. The disease is caused by variants affecting the gene represented in this entry. |