Disease ID | Source | Name | Description |
618702 | OMIM | Short stature and microcephaly with genital anomalies (SSMGA) | An autosomal recessive disease characterized by growth failure resulting in severe short stature, severe microcephaly, and delayed and dissociated bone age. Additional features include global psychomotor developmental delay, pubertal delay and genital anomalies. The disease may be caused by variants affecting the gene represented in this entry. |