These complications included swallowing dysfunction and gastroesophageal reflux with secondary recurrent respiratory infections. In addition, hypotonia and a mild myopathy were also present. [ncbi.nlm.nih.gov]

Both children have normal hearing and mild developmental delay. Their high-resolution karyotypes were normal and the FISH for 22q11 microdeletion was negative in the daughter. [ncbi.nlm.nih.gov]

[…] failure Bulbous nose Metabolic acidosis Delayed myelination Aciduria Infantile muscular hypotonia Tented upper lip vermilion Strabismus Dystonia Cryptorchidism Intrauterine growth retardation Abnormality of the dentition Intellectual disability, mild Alopecia [mendelian.co]

[…] palpebral fissure Horizontal nystagmus Retinal coloboma Syndactyly Carcinoma Craniosynostosis Blepharophimosis Finger syndactyly Facial asymmetry Polymicrogyria Bullet-shaped distal phalanx of the hallux Abnormality of the skin Broad thumb Generalized hirsutism [mendelian.co]

EEGs showed epileptiform activity in 4/17 (24%) and background abnormalities in 5/17 (29%) of patients. CONCLUSION: This study clearly demonstrated the presence of structural and functional neurologic alterations related to MFDH. [ncbi.nlm.nih.gov]