has material basis in germline mutation in TCF4 syndromic intellectual disability syndromic disease Pitt-Hopkins syndrome https://github.com/monarch-initiative/mondo/issues/5588 https://rarediseases.info.nih.gov/diseases/4372/pitt-hopkins-syndrome https://www.malacards.org/card/pitt_hopkins_syndrome OMIM:610954 SCTID:702344008 NCIT:C129872 DOID:0060488 intellectual disability, wide mouth, distinctive facial features, and intermittent hyperventilation followed by apnea icd11.foundation:2040786134 GARD:0004372 ICD9:758.5 NORD:1921 mental retardation, Syndromal, with intermittent hyperventilation Pitt-Hopkins syndrome PTHS UMLS:C1970431 MONDO:0012589 MEDGEN:370910 MESH:C537403 Pitt Hopkins syndrome Orphanet:2896 Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing. monogenic epilepsy Pitt-Hopkins or Pitt-Hopkins-like syndrome