| Disease ID | Source | Name | Description |
| 612079 | OMIM | Alopecia, neurologic defects, and endocrinopathy syndrome (ANES) | Affected individuals have hair loss of variable severity, ranging from complete alopecia to near-normal scalp hair with absence of body hair. All have moderate to severe mental retardation, progressive motor deterioration and central hypogonadotropic hypogonadism with delayed or absent puberty and central adrenal insufficiency. Additional features included short stature, microcephaly, gynecomastia, pigmentary anomalies, hypodontia, kyphoscoliosis, ulnar deviation of the hands, and loss of subcutaneous fat. The disease is caused by variants affecting the gene represented in this entry. |