Mild Phenotype: Causes & Reasons

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Possible Causes for Mild Phenotype

Glutamate Formiminotransferase Deficiency

Features of a mild phenotype include high urinary excretion of FIGLU in the absence of histidine administration, mild developmental delay, and no hematological abnormalities [ncbi.nlm.nih.gov]

There are two forms of the disorder: a severe phenotype and a mild phenotype. [egl-eurofins.com]

Features of a severe phenotype, include elevated levels of formiminoglutamate (FIGLU) in the urine in response to histidine administration, megaloblastic anemia, and mental [uniprot.org]

Monosomy 21q

All three patients had relatively mild phenotypes. [jhu.pure.elsevier.com]

Mild Phenotypic Manifestations of Terminal Deletion of the Long Arm of Chromosome 4: Clinical Description of a New Patient. A Caliebe et al., Clin Genet. [rarediseases.org]

In contrast to previous observations, we showed that deletions of the 21q proximal region are not necessarily associated with severe phenotypes and, therefore, that mild phenotypes [molecularcytogenetics.biomedcentral.com]

Leydig Cell Hypoplasia due to LHB Deficiency

Females with inactivating mutations in the LHCGR gene display a mild phenotype characterized by defective follicular development and ovulation, amenorrhea, and infertility [ncbi.nlm.nih.gov]

Type II, a milder form caused by partial inactivation of the gene, displays a broader range of phenotypic expression ranging from micropenis to severe hypospadias. [ncbi.nlm.nih.gov]

Sarcotubular Myopathy

* Most patients have a mild phenotype, with limb-girdle weakness and a waddling gait at presentation. [checkorphan.org]

In our family, the phenotype encompasses additionally a mild demyelinating polyneuropathic syndrome. [ncbi.nlm.nih.gov]

Interestingly, heterozygous family members carrying only one mutation showed mild clinical symptoms and vacuolar changes in muscle. [ncbi.nlm.nih.gov]

Cornelia De Lange Syndrome

[…] and major malformations are typical of the mild phenotype. [ncbi.nlm.nih.gov]

Curiously, the study of fibroblasts of two siblings with a mild CdLS phenotype and a pathological variant specific of the isoform A of NIPBL (c.8387A > G; P.Tyr2796Cys), showed [ncbi.nlm.nih.gov]

SMC1A and SMC3 mutations are responsible for a mild phenotype of the syndrome. [ncbi.nlm.nih.gov]

Craniofrontonasal Dysplasia

Contrary to most X-linked disorders, females are much more severely affected whereas males are asymptomatic or present with a mild phenotype, frequently only displaying hypertelorism [orpha.net]

We suggest that this individual does have the CFND mutation, but has an extremely mild phenotype that is not detectable with clinical examination. [unboundmedicine.com]

Congenital Myopathy with Excess of Thin Filaments

Google Scholar | Crossref | Medline | ISI Jungbluth H., Sewry CA, Brown SC, et al: Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the [journals.sagepub.com]

Mild phenotype of nemalinemyopathy with sleep hypoventilation due to a mutation in theskeletal muscle alpha-actin (ACTA1) gene. Neuromuscul Dis-ord 2001;11:3540.15. [documents.tips]

Clinical analyses revealed that the case described in the present study exhibited a relatively mild phenotype with regards to muscle weakness, as compared with more severe [spandidos-publications.com]

Cholesterol Ester Storage Disease

Markus Exner, Thomas Helbich, Clemens Dejaco, Gerd Schmitz, Peter Ferenci, A novel variant of lysosomal acid lipase in cholesteryl ester storage disease associated with mild [onlinelibrary.wiley.com]

[…] lipolytic enzymes of medical interest. 61 Roussel A...Cambillau C 10358049 1999 35 A novel variant of lysosomal acid lipase in cholesteryl ester storage disease associated with mild [malacards.org]

A novel variant of lysosomal acid lipase in cholesteryl ester storage disease associated with mild phenotype and improvement on lovastatin. [genecelltissue.com]

Legius Syndrome

phenotype and to investigate whether other SPRED/SPRY genes may be causal, a panel of unrelated mild NF1 patients were screened for mutations of the SPRED1-3 and the SPRY1 [ncbi.nlm.nih.gov]

Methods: 85 patients with a mild NF1 phenotype were screened for SPRED1 mutations. 44 patients negative for both NF1 and SPRED1 mutations were then screened for SPRED2-3 and [digital.library.adelaide.edu.au]

Overall SPRED1 mutations apparently account for ∼10% of patients with a mild NF1 phenotype in the two cohorts reported (Brems et al6 and the present study) to date. [jmg.bmj.com]

Isovaleric Acidemia

Recommendations on how to counsel and manage individuals with the mild phenotype detected by NBS are required. [mdpi.com]

So more than half of IVA patients represent a new mild phenotype and potentially remain asymptomatic. [e-imd.org]

The inclusion of IVA in NBS programs in many countries has broadened knowledge of the variability of the condition, whereas prior to NBS, two distinct clinical phenotypes [mdpi.com]

3q29 Microdeletion

The phenotype includes mild-to-moderate mental retardation, with only slightly dysmorphic facial features that are similar in most patients: a long and narrow face, short [research.manchester.ac.uk]

The clinical phenotype is variable despite an almost identical deletion size. [research.manchester.ac.uk]

Trisomy 18p

At autopsy, the proband displayed a mild phenotype of hypertelorism, a small mouth, micrognathia, a narrowly arched palate, low-set ears, and clinodactyly. [ncbi.nlm.nih.gov]

Pure trisomy of the whole arm of chromosome 18 (18p), has been described in only a few cases and the general consensus is that there is a mild phenotypic effect. [ncbi.nlm.nih.gov]

Trisomy 18 mosaicism is often associated with normal intelligence and mild phenotype. [icd10data.com]

Long QT Syndrome 2

Mental Retardation without Timothy Syndrome Phenotypes A novel CACNA1C mutation(R860Q) in a family presented with QT Prolongation and mild Mental Retardation without Timothy [researchmap.jp]

Metal Retardation without Timothy Syndrome Phenotypes 論文テキストで表示 1 2 > Low-dose i.v. urokinase for coronary thrombosis in Kawasaki disease. [researchmap.jp]

表示 2018年10月 The 11th Asia Pacific Heart Rhythm Society Scientific Session Best Poster Award A novel CACNA1C mutation(R860Q) in a family presented with QT Prolongation and mild [researchmap.jp]

Junctional Epidermolysis Bullosa

CONCLUSIONS: In contrast to complete null phenotypes, presence of minor amounts of collagen XVII protein in JEB skin is associated with mild phenotypic manifestations. [ncbi.nlm.nih.gov]

phenotype of JEB due to reduced membrane-anchored collagen XVII molecules. [ncbi.nlm.nih.gov]

Conclusions In contrast to complete null phenotypes, presence of minor amounts of collagen XVII protein in JEB skin is associated with mild phenotypic manifestations. [jmg.bmj.com]

Rigid Spine Syndrome

Ultra-deep sequencing (deep sequencing) of single genes (e.g. with a coverage of 1000x) for detection of low grade mosaicism (5%) which may cause a mild phenotype or for detection [medical-genetics.de]

Jungbluth H, Sewry CA, Brown SC et al : Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle α -actin ( ACTA1 ) gene. [nature.com]

AD variant: Mutations in dynamin 2 (DNM2) Most patients have a mild phenotype Onset in adolescence or adulthood Axial as well as distal more than proximal limb weakness [slideshare.net]

Generalized Epilepsy with Febrile Seizures Plus

Management and treatment As most patients with GEFS+ have a mild phenotype, treatment may not be necessary. [orpha.net]

Prognosis The overall prognosis depends on the exact phenotype within the GEFS+ spectrum. In patients with mild phenotypes (FS, FS+) seizures often remit by adolescence. [orpha.net]

However, precise phenotypes cannot be predicted as wide phenotypic variability is seen within families. [orpha.net]

Mild Androgen Insensitivity Syndrome

The clinical phenotype associated with MAIS is a normal male habitus with mild spermatogenic defect and / or reduced secondary terminal hair. [artsandculture.google.com]

[…] female, mild androgen insensitivity syndrome is indicated when the external genitalia is phenotypically male, and partial androgen insensitivity syndrome is indicated when [artsandculture.google.com]

[…] into three categories that are differentiated by the degree of genital masculinization: complete androgen insensitivity syndrome is indicated when the external genitalia is phenotypically [artsandculture.google.com]

Opitz G/BBB Syndrome Type 1

A structure-function study of MID1 mutations associated with a mild Opitz phenotype. Mol Genet Metab. 2006;87:198–203. [ncbi.nlm.nih.gov]

phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations. 6 61 So J...Schweiger S 15558842 2005 6 Duplication of the MID1 first exon in a patient with [malacards.org]

Mild phenotypes in a series of patients with Opitz G/BBB syndrome with MID1 mutations. Am J Med Genet. 2005;132A:1-7. DeFalco F, Cainarca S, Andolfi G, et al. [rarediseases.org]

Proximal Trisomy 14q

Other phenotypic manifestations were generally mild and variable; for example, patient 1 had a short palpebral fissure and low-set ears whereas patient 2 had a round face, [ncbi.nlm.nih.gov]

Mild phenotype due to inverse duplication 4p16.3 - P15.3 including the Wolf-Hirschhorn critical region. Genet Couns. 2002;13:29–33. [PubMed] [Google Scholar] 5. [ncbi.nlm.nih.gov]

Chromosome 4q32.1-q32.2 Triplication Syndrome

Four previously reported patients with 4q duplications had HD: two with duplication resulting from t(4;14)(q31.3;p11.2) who had a very mild phenotype similar to our patients [ashg.org]

[…] have imbalances that consistently give rise to relatively mild phenotypic abnormalities. [jmg.bmj.com]

Familial tandem duplication of bands q31.1 to q32.3 on chromosome 4 with mild phenotypic effect. [ngrl.org.uk]

Partial Monosomy 7p

Mild phenotypic manifestation of a 7p15.3p21.2 deletion. J Med Genet. 1993;30:610-12. Grebe TA, et al. 7p deletion syndrome: an adult with mild manifestations. [rarediseases.org]

Etiology The phenotype remains unclear: low birth weight, persistent growth delay, mild psychomotor retardation and hypotonia have been reported, together with single reports [orpha.net]

Haploinsufficiency for the trans-acting T-cell-specific transcription factor GATA-3 (encoded by the GATA3 gene, and mapped to the 10p14-pter region) is responsible for this phenotype [orpha.net]

X-Linked Mental Retardation Type 84

In contrast, 44 heterozygous female carriers have normal cognition and behavior, but eight showed mild physical features. [ibrain.univ-tours.fr]

All RLIM variants identified are missense changes co-segregating with the phenotype and predicted to affect protein function. [ibrain.univ-tours.fr]

Primary Focal Segmental Glomerulosclerosis

Nature medicine, 2011, 17, 8, p. 968-974 Dominant GDAP1 mutations cause predominantly mild CMT phenotypes Zimon M, Baets J, Fabrizi GM, et al. [myobase.org]

Opitz G/BBB Syndrome Type 2

phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations. 6 61 So J...Schweiger S 15558842 2005 6 Duplication of the MID1 first exon in a patient with [malacards.org]

phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations. 6 So J...Schweiger S 15558842 2005 12 Duplication of the MID1 first exon in a patient with [malacards.org]

Mild phenotypes in a series of patients with Opitz GBBB syndrome with Mid1 mutations. Am J Med Genet. 2005;132A(1):1–7. Google Scholar | Crossref | Medline [journals.sagepub.com]

Bethlem Myopathy Type 2

Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy. Am J Hum Genet 2002;70:1446-1458. [ Links ] 25. [scielo.br]

Mutations in COL6A3 cause severe and mild phenotypes of Ullrich Congenital Muscular Dystrophy. Am. J. Hum. [pepsic.bvsalud.org]

For emphasizing this clinical and genetic heterogeneity, we report on two patients with distal joint hiperlaxity, the first with a mild to moderate myopathic phenotype including [scielo.br]

Charcot-Marie-Tooth Disease Type 1B

A mild phenotype, which was recurrent in response to intense manual labor, not unlike HNPP, has been reported. [medscape.com]

Some point mutations result in a surprisingly mild phenotype with late onset and relatively faster nerve conduction velocities. [medscape.com]

Congenital Laryngeal Cleft - Opitz G/BBB Syndrome

phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations. 6 61 So J...Schweiger S 15558842 2005 6 Duplication of the MID1 first exon in a patient with [malacards.org]

Mild phenotypes in a series of patients with Opitz GBBB syndrome with Mid1 mutations. Am J Med Genet. 2005;132A(1):1–7. Google Scholar | Crossref | Medline [journals.sagepub.com]

Mild phenotypes in a series of patients with Opitz G/BBB syndrome with MID1 mutations. Am J Med Genet. 2005;132A:1-7. DeFalco F, Cainarca S, Andolfi G, et al. [rarediseases.org]

Monosomy 3pter-p25

Journal of Medical Genetics Feb 25, 1998 Abstract We report a female patient with a 46,XX,der(8)t(1;8)(q42.1;p23.3) karyotype who had a mild phenotype characterised by a few [meta.org]

Jpn J Human Genet29: 157–162 Mckinley M, Calley A, Sinclair P, Donnai D, Anderews T (1991):De novo ring chromosome 3: a new case with a mild phenotype. [nature.com]

Partial trisomy 1 (q42--> qter): a new case with a mild phenotype. J Med Genet. 1998;35:75-77. Fan Y-S, Jung J, Hamilton B. [najms.com]

Xp11.22 Duplication Syndrome

The phenotype of patients is extremely variable, ranging from multiple defects to mild learning difficulties, sharing features with DGS/VCFS, including heart defects, urogenital [pubmed.ncbi.nlm.nih.gov]

The basis of phenotype variability remains to be elucidated. The large majority of affected individuals have identical 3Mb duplications. [pubmed.ncbi.nlm.nih.gov]

KCNT1-Related Epilepsy

Phenotypes and Refinement of the 2q Locus Douglas E Crompton, Lynette G Sadleir, Catherine J Bromhead, Melanie Bahlo, Susannah T Bellows, Todor Arsov, Rosemary Harty, Kate [findanexpert.unimelb.edu.au]

Leventer, Angela Vincent, Samuel F Berkovic, Jacinta M McMahon, Ingrid E Scheffer Journal article | 2012 | Epilepsy Research Familial Adult Myoclonic Epilepsy Recognition of Mild [findanexpert.unimelb.edu.au]