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4,871 Possible Causes for Growth Retardation, Muscle Hypotonia, UDP-GlcNAc Decreased

  • Immunodeficiency Type 23

    Impaired function of PGM3 is demonstrated by decreased enzyme activity, reduced UDP-GlcNAc and reduced N-linked glycosylation and O-linked glycosylation [4] PGM3 is composed[en.wikipedia.org] Common symptoms include intellectual disability, feeding problems, growth retardation, hypotonia, microcephaly and degeneration of the cerebellum (cerebellar atrophy).[rarediseases.org] Decreased muscle tone Low muscle tone [ more ] 0001290 Global developmental delay 0001263 High palate Elevated palate Increased palatal height [ more ] 0000218 Hyporeflexia[rarediseases.info.nih.gov]

  • Celiac Disease

    In infants and young children with untreated celiac disease, failure to thrive and growth retardation are relatively common.[symptoma.com] The child has failure to thrive , apathy, anorexia, pallor, generalized hypotonia, abdominal distention, and muscle wasting.[merckmanuals.com] Celiac disease as a cause of growth retardation in childhood. Curr Opin Pediatr. 2004; 16 :445–449. [ PubMed ] [ Google Scholar ] 9.[ncbi.nlm.nih.gov]

    Missing: UDP-GlcNAc Decreased
  • Congenital Muscular Dystrophy

    This leads to heart defects, mental retardations and other neurological complications.[news-medical.net] Congenital muscular dystrophy (CMD) comprises a heterogeneous group of disorders with muscle weakness, hypotonia and contractures present at birth.[ncbi.nlm.nih.gov] Hypotonia means decreased muscle tone. Hypotonia is often a sign of a worrisome problem. The condition can affect children or adults.[nlm.nih.gov]

    Missing: UDP-GlcNAc Decreased
  • Mulibrey Nanism Syndrome

    Symptoms - Mulibrey Nanism syndrome * Fetal growth retardation * Low birth weight * Short stature * Large hands * Large feet * Long head * J-shaped sella turcia * Triangular[checkorphan.org] Muscle hypotonia is frequently seen and newborns often have characteristic abnormalities of the head and face including a triangularly shaped face.[rarediseases.org] Additional clinical features include hepatomegaly, muscle hypotonia, J-shaped sella turcica, yellowish dots in the ocular fundi, hypoplasia of various endocrine glands, insulin[genecards.org]

    Missing: UDP-GlcNAc Decreased
  • Neuronal Ceroid Lipofuscinosis

    […] iron overload - lactic acidosis - early death Growth retardation-mild developmental delay-chronic hepatitis syndrome GSD due to acid maltase deficiency, adult onset GSD due[csbg.cnb.csic.es] Children with CLN1 disease have decreased muscle tone (hypotonia), intellectual and motor disability, and rarely are able to speak or walk.[ghr.nlm.nih.gov] Low or weak muscle tone 0001252 Ocular albinism Absent pigmentation in the eye 0001107 Seizures Seizure 0001250 Visual loss Loss of vision Vision loss [ more ] 0000572 30%[rarediseases.info.nih.gov]

    Missing: UDP-GlcNAc Decreased
  • Wolf-Hirschhorn Syndrome

    Accordingly, prenatal-onset growth retardation and failure to thrive have been found to result from haploinsufficiency for a 4p gene located between 0.4 and 1.3 Mb, whereas[ncbi.nlm.nih.gov] Generalized muscle hypotonia was observed at birth.[ncbi.nlm.nih.gov] hypotonia, seizures, and congenital heart defects.[en.wikipedia.org]

    Missing: UDP-GlcNAc Decreased
  • Glycogen Storage Disease Type 3

    GSD III is characterized by fasting hypoglycemia, hepatomegaly, growth retardation, progressive myopathy, and cardiomyopathy due to storage of abnormally structured glycogen[ncbi.nlm.nih.gov] The first signs and symptoms are typically poor muscle tone (hypotonia) and mild myopathy in early childhood. The myopathy may become severe by early to mid-adulthood.[ghr.nlm.nih.gov] Clinically, patients with GSD III present in infancy or early childhood with hepatomegaly, hypoglycemia, and growth retardation.[humpath.com]

    Missing: UDP-GlcNAc Decreased
  • Coffin-Lowry Syndrome

    Abstract The Coffin-Lowry syndrome (CLS) is a syndromic form of X-linked mental retardation characterised in male patients by psychomotor and growth retardation, and various[ncbi.nlm.nih.gov] Muscle hypotonia and decreased or abolished muscle stretch reflexes are noted, whereas eye movements and sometimes verbal communication are possible. 8 TABLE 2.[pediatrics.aappublications.org] Coffin-Lowry syndrome (CLS) is a rare X linked mental retardation syndrome characterised by severe psychomotor and growth retardation, distinct facial phenotype, and progressive[ncbi.nlm.nih.gov]

    Missing: UDP-GlcNAc Decreased
  • Kaufman Oculocerebrofacial Syndrome

    Proportionate growth retardation with a small head circumference/microcephaly, congenital malformations, muscular hypotonia, anomalies on brain imaging with hypoplasia of[uniprot.org] Affected individuals have weak muscle tone (hypotonia), and are delayed in developing motor skills such as walking. Intellectual disability is severe or profound.[ghr.nlm.nih.gov] Generalized hypotonia Generalized muscular hypotonia, Decreased muscle tone, Low muscle tone, Hypotonia [more] Generalized muscular hypotonia (abnormally low muscle tone).[rarediseases.oscar.ncsu.edu]

    Missing: UDP-GlcNAc Decreased
  • Dubowitz Syndrome

    […] syndrome Human disease Dubowitz's syndrome (disorder) Dubowitz's syndrome Dwarfism-eczema-peculiar facies syndrome Intrauterine growth retardation, short stature, microcephaly[wikidata.org] Low or weak muscle tone 0001252 Neuroblastoma Cancer of early nerve cells 0003006 Otitis media Middle ear infection 0000388 Pes planus Flat feet Flat foot [ more ] 0001763[rarediseases.info.nih.gov] The Dubowitz syndrome is an autosomal recessive condition of intrauterine growth retardation, postnatal growth retardation, microcephaly, characteristic facial appearance,[ncbi.nlm.nih.gov]

    Missing: UDP-GlcNAc Decreased

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