Create issue ticket

12 Possible Causes for All Reported Mutations Have Occurred De Novo, Feeding Difficulties

Show results in: Română

  • Helsmoortel-van der Aa Syndrome

    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] difficulty, esotropia, nystagmus, central hypotonia Cataract Motor delay Blurred vision, diplopia, choking episodes, limb weakness Chronic bronchitis Axonal sensorimotor[kundoc.com] Brain malformations cause abnormal muscle tone, spasticity or hypotonia, developmental delay, seizures severe intellectual disability, and feeding difficulties.[intechopen.com]

  • Lissencephaly

    So far, all mutations in TUBA1A have occurred de novo, resulting in isolated cases.[ncbi.nlm.nih.gov] Clinical manifestations include swallowing and feeding difficulties, abnormal muscular tone, seizures and severe to profound psychomotor retardation.[orpha.net] difficulties, growth retardation, impaired motor activity Miller, James Q., U.S. physician.[medical-dictionary.thefreedictionary.com]

  • Cerebro-Costo-Mandibular Syndrome

    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] Sometimes, there are associated anomalies and problems, such as spine deformities, brain, heart, kidney or ear anomalies, feeding difficulties, delayed psychomotor development[ncbi.nlm.nih.gov] Furthermore, a cleft palate and feeding difficulties are frequently noted, and the term "Pierre Robin sequence" is frequently used to describe facial and mandibular features[symptoma.com]

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

    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] […] ventricles Causes - Hennekam Beemer syndrome * Curved fifth finger * Dilated brain ventricles * High arched palate * Impaired hearing * Infant feeding difficulty * Large[checkorphan.org] Feeding difficulties MedGen UID: 65429 • Concept ID: C0232466 • Finding Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow[ncbi.nlm.nih.gov]

  • Dystrophic Epidermolysis Bullosa

    All cases with localised DDEB have not necessarily been documented or registered in DEB databases and therefore those mutation reports are limited.[medicaljournals.se] Severe EB often affects the whole body, and some complications, such as infection, feeding difficulties, and loss of nutrients through the skin, can be fatal.[medicalnewstoday.com] Here we report another de novo mutation of c.5282G A (p.Gly1761Asp) in exon 60.[medicaljournals.se]

  • Anophthalmia - Microphthalmia Syndrome

    All remaining reported cases of SOX2 mutations and deletions have occurred de novo.[molvis.org] Seizures and feeding difficulties are common.[patient.info] Particular attention is focused upon the face, including ear and palate, the cardiac system, genital anomalies, feeding difficulties, which might indicate oesophageal abnormality[nature.com]

  • Ectrodactyly

    have been previously reported in dbSNP, Exome Variant Server ( ) or the scientific literature, and all heterozygous mutations have occurred de novo.[jmg.bmj.com] Growth Growth retardation is a common prenatal and postnatal finding, resulting in low birth weight [ 2 , 6 , 7 ], weight deficiency often in conjunction with feeding difficulties[ojrd.biomedcentral.com] […] the conformation of this region ( figures 3 and 4 , see online supplementary table S3) and shown to decrease kinase activity. 27 , 28 To our knowledge, none of these FGFR1 mutations[jmg.bmj.com]

  • Geleophysic Dysplasia

    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] Some individuals with Myhre syndrome may have difficulties swallowing and/or feeding.[rarediseases.org]

  • Anophthalmia or Microphthalmia - Esophageal Atresia Syndrome

    All remaining reported cases of SOX2 mutations and deletions have occurred de novo.[molvis.org] The most common are: frothy white bubbles in your baby's mouth coughing or choking when feeding blue color of the skin, especially when your baby is feeding difficulty breathing[childrenshospital.org] […] is feeding Difficulty breathing Very round, full abdomen Other congenital malformations might be present, such as the ones mentioned in the previous section.[childrensnational.org]

  • GOMBO Syndrome

    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] Some individuals with Myhre syndrome may have difficulties swallowing and/or feeding.[rarediseases.org]

Further symptoms

Similar symptoms