has material basis in germline mutation in RARB microphthalmia, syndromic 12 https://rarediseases.info.nih.gov/diseases/13235/syndromic-microphthalmia-12 https://www.malacards.org/card/microphthalmia_syndromic_12 UMLS:C3809803 DOID:0111800 microphthalmia, syndromic 12 OMIM:615524 syndromic microphthalmia-12 GARD:0013235 microphthalmia, syndromic type 12 MEDGEN:816133 MCOPS12 Syndromic microphthalmia-12 is a rare disease characterized by bilateral small eyeballs (microphthalmia), lungs that are too small (pulmonary hypoplasia), and a defect or hole in the diaphragm that allows the abdominal contents to move into the chest cavity (diaphragmatic hernia). Other symptoms may include: Severe global developmental delay with progressive motor impairment due to spasticity and/or uncontrolled repetitive muscular contractions (dystonia), with or without abnormal quick movements that resemble dancing (chorea), Defects of the cerebellum (Chiari type I malformation) Accumulation of cerebrospinal fluid inside the brain (hydrocephaly), Severe feeding difficulties, Mild facial dysmorphism with broad nasal root and tip, and a very small chin (micrognathia), Severe language delay, Wheelchair-bound. Syndromic microphthalmia-12 is caused by mutations in the RARB gene. There is no specific treatment for this syndrome. MONDO:0014229 syndromic microphthalmia caused by mutation in RARB Orphanet:689829 RARB syndromic microphthalmia syndromic microphthalmia