Mutation | Individual/age | Reference | Phenotype |
p.(Leu54Cysfs*24) | Individual 24 17 years | This article | Hypotonia, feeding difficulties requiring TF, GORD, apnoeas, hypersomnolence, hypothermia, severe ID, no speech, walking at age 4 years, short stature (−5 SD), epilepsy, mild PDA, mild strabismus, scoliosis, hip dysplasia, small hands and feet |
Individual 31 16 years | This article | Hypotonia, feeding difficulties requiring TF, hypersomnolence, severe ID, no speech, not able to walk, short stature (−2.75 SD), epilepsy, scoliosis, epilepsy, long fingers | |
p.(Lys97Glu) | Individual 20 2.5 years | This article | Hypotonia, mild feeding difficulties, hypersomnolence, no speech, not able to walk, mild constipation, pes planus |
Subject #4 21 months | Lalani et al6 | Hypotonia, feeding difficulties, respiratory difficulties, seizures, ID, non-verbal, non-ambulatory, short stature (1%), strabismus, duplex left kidney, hydronephrosis | |
p.(Phe233del) | Individual 4 14 years | This article | Hypotonia, feeding difficulties, apnoeas, hypersomnolence, severe ID, no speech, able to walk, ASD, stereotypic hand movements, delayed myelination, swallow problems, severe hypermetropia, strabismus, low vitamin D, low ferritin, pes planus, abnormal peripheral nerve testing |
Individual 5 19 years | This article | Hypotonia, feeding difficulties, apnoeas, hypersomnolence, hypothermia, severe ID, no speech, not able to walk, stereotypic hand movements, epilepsy, nystagmus, delayed myelination, drooling, constipation, strabismus, CVI, scoliosis, hip dysplasia, low bone mineralisation, low vitamin D, anaemia, delayed puberty, small hands, pes planus | |
Individual 14 9 years | This article | Hypotonia, severe ID, no speech, first steps age 7 years, epilepsy, delayed myelination, aberrant left subclavian artery, VSD, drooling, refraction abnormality, strabismus, low vitamin D, high cholesterol | |
Patient 4 6 months | Tanaka et al8 | Hypotonia, CVI, periventricular leukomalacia | |
Patient 4 6 years, 9 months | Hunt et al7 | Hypotonia, feeding difficulties requiring TF, apnoeas, hypothermia, severe ID, not able to walk, essentially non-verbal, exaggerated startle response, dystonia, dyskinesia, epilepsy, CVI, delayed myelination, excessive extra-axial fluid spaces, cerebral atrophy, hyperprolactinaemia, blunted cortisol stress response, low vitamin D | |
p.(Arg245Pro) | Individual 1 19 years | This article | Hypotonia, feeding difficulties, severe ID, no speech, not able to walk, autistic-like traits, chorea-like movements, Babinski response, delayed myelination, scoliosis, low vitamin D, hypogonadotropic hypogonadism |
Individual 15 9 years | This article | Hypotonia, feeding difficulties requiring TF, apnoeas, hypersomnolence, hypothermia, severe ID, no speech, first steps at age 4 years, epilepsy, drooling, constipation, pes planus | |
p.(Phe271del) | Individual 28 11 months | This article | Hypotonia, neonatal convulsions, moderate ID |
Subject #1 6 months | Lalani et al6 | Hypotonia, feeding difficulties, respiratory difficulties, seizures, ID, pedal oedema |
ASD, autism spectrum disorder; CVI, cortical visual impairment; GORD, gastro-oesophageal reflux disease; ID, intellectual disability; PDA, persistent ductus arteriosus; TF, tube feeding; VSD, ventricular septum defects.