pontine tegmental cap dysplasia https://github.com/monarch-initiative/mondo/issues/6752 https://github.com/monarch-initiative/mondo/issues/6876 https://rarediseases.info.nih.gov/diseases/10919/pontine-tegmental-cap-dysplasia https://www.malacards.org/card/pontine_tegmental_cap_dysplasia pontine tegmental cap dysplasia Orphanet:269229 Pontine tegmental cap dysplasia (PTCD) is a non-progressive neurological disorder characterized by significant developmental delay, cranial nerve dysfunction, and malformation of the hindbrain.Individuals with PTCD may have a collection of medical and developmental problems including: hearing impairment, ataxia,language and speech disorders, feeding and swallowingdifficulties, heartmalformations and facial paralysis.The severity of themedical problems varies among patients. Some patients have a good long-term prognosiswith normal intelligence and partial speech. The cause of PTCD has not been identified. Treatment is focused on managing the underlying symptoms and may include interventions such as cochlear implantation. OMIM:614688 PTCD GARD:0010919 UMLS:C3541340 MEDGEN:762040 MONDO:0013858 central nervous system malformation