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12 Possible Causes for All Reported Mutations Have Occurred De Novo, Failure to Thrive

  • Lissencephaly

    Symptoms of the disorder may include unusual facial appearance, difficulty swallowing, failure to thrive, muscle spasms, seizures, and severe psychomotor retardation.[ninds.nih.gov] So far, all mutations in TUBA1A have occurred de novo, resulting in isolated cases.[ncbi.nlm.nih.gov] CONCLUSIONS: Mutations in TUBA1A have been described in patients with lissencephaly and pachygyria. We report a mutation in TUBA1A as a cause of polymicrogyria.[ncbi.nlm.nih.gov]

  • Hypopituitarism

    , fatigue Children/infants – failure to thrive Posterior pituitary (hypothalamic) Central diabetes insipidus Adults – polydipsia, polyuria, nocturia Children – vomiting, diarrhea[arupconsult.com] All of these mutations occurred de novo and included five nonsense, four frameshift, one deletion and two missense mutations.[web.archive.org] […] pubertal development Infants – cryptorchidism, microphallus GH Adults – fatigue, decreased muscle mass and strength, reduced bone marrow density Children – short stature, failure[arupconsult.com]

  • Dystrophic Epidermolysis Bullosa

    […] to thrive.[ncbi.nlm.nih.gov] All cases with localised DDEB have not necessarily been documented or registered in DEB databases and therefore those mutation reports are limited.[medicaljournals.se] Failure to thrive, cheilitis, hypohidrosis, and pruritus are other potential complications.[raregeneticdisorder.blogspot.com]

  • Geleophysic Dysplasia

    Geleophysic Dysplasia is characterised by extremely short stature, small hands and feet, failure to thrive and accompanying physical disabilities including progressive heart[mpssociety.org.uk] All reported mutations have occurred as new (sporadic or de novo ) mutations, which means that in these cases the gene mutation has occurred at the time of the formation of[rarediseases.org]

  • Optic Atrophy

    Both affected sisters presented with a similar cluster of neurodevelopmental deficits marked by failure to thrive, generalised neuromuscular weakness and optic atrophy.[ncbi.nlm.nih.gov] Although almost all benign mutations were inherited, the majority of severe mutations occurred de novo.[ncbi.nlm.nih.gov] Of interest, de novo SCN2A mutations have also been reported in five patients without seizures but with ID (n 3) and/or autism (n 3).[ncbi.nlm.nih.gov]

  • Cerebro-Costo-Mandibular Syndrome

    Feeding problems and its outcome failure to thrive is an additional problem in these babies.[go.galegroup.com] reported mutations have occurred de novo; Facial dysmorphic features are variable MOLECULAR BASIS: Caused by mutation in the K(lysine) acetyltransferase 6A gene (KAT6A, 601408.0001[findzebra.com] […] to thrive and conductive hearing loss (seen in about 10 % of cases). [3], [9] The developmental anomalies in our case with the estimated percentage of those described in[jpgmonline.com]

  • Anophthalmia - Microphthalmia Syndrome

    […] to thrive; ID intellectual disability; SNHL sensorineural hearing loss Footnotes: 1.[ncbi.nlm.nih.gov] All remaining reported cases of SOX2 mutations and deletions have occurred de novo.[molvis.org] Developmental Disorders Associated with Failure to Thrive Eurekah Bioscience Collection Cranial Neural Crest and Development of the Head Skeleton Reviews Bookshelf vision[embryology.med.unsw.edu.au]

  • Helsmoortel-van der Aa Syndrome

    Transient neonatal seizures, nystagmus, strabismus and failure to thrive are also seen in most cases.[findzebra.com] […] to thrive, hearing loss Infantile hepatocerebral mtDNA depletion Frequent vomiting MR [23] [23] [28] [14] [15] [15] [15] [13,29] [13,29] [13,29] [13,30] [16] [16] [16] [13[kundoc.com] […] disorders Short Chain Acyl CoA Dehydrogenase deficiency (SCAD) Short Chain Hydroxy Acyl CoA Dehydrogenase deficiency (SCHAD) SCAD deficiency presents in the neonatal period with failure-to-thrive[intechopen.com]

  • Cutaneous Mastocytosis - Short Stature - Conductive Hearing Loss - Microtia

    […] to thrive 60 33 hallmark (90%) Very frequent (99-80%) HP:0001508 5 microtia 60 33 hallmark (90%) Very frequent (99-80%) HP:0008551 6 microcephaly 60 33 hallmark (90%) Very[malacards.org] reported mutations have occurred de novo MOLECULAR BASIS: Caused by mutation in the nonselective sodium leak channel gene (NALCN, 611549.0004) Description The large number[findzebra.com] […] to thrive 59 32 hallmark (90%) Very frequent (99-80%) HP:0001508 6 respiratory insufficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0002093 7 hypotension 59 32 occasional[malacards.org]

  • Anophthalmia or Microphthalmia - Esophageal Atresia Syndrome

    […] to thrive / difficulties for feeding in infancy / growth delay - Holoprosencephaly / arhinencephaly / unique lateral ventricle - Hydrocephaly - Hypospadias / epispadias [csbg.cnb.csic.es] All remaining reported cases of SOX2 mutations and deletions have occurred de novo.[molvis.org] A failure to thrive (length and weight, head circumference on third centile) due to gastroesophageal reflux was documented.[link.springer.com]

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