stature ; Splenomegaly Associated Genes KLF1 (Withdrawn symbols: EKLF ) Mouse Orthologs Klf1 (Withdrawn symbols: Eklf, Nan ) Source OMIM:613673 (names, synonyms, disease associated genes), Orphanet (disease classes), HGNC, Ensembl, MGI (gene symbols, [mousephenotype.org]

Some cases have congenital abnormalities such as syndactyly, aberrations of the bones of the hands and feet (absence or hypoplasia of some phalanges, additional phalanges), dysplastic nails, short stature and abnormal pigmentation of areas of the skin [clinicalgate.com]

One child exhibited transient growth hormone deficiency and short stature. This disorder was formerly known as CDG-If. [rarediseases.org]

Methods: A full term infant, aged seven month, presented with pallor and jaundice of the skin, moderate splenomegaly and severe anemia was enrolled in the study. Pallor appeared in the five month of life, which was not interpreted correctly. [omicsonline.org]

This is a rare finding in CDA. 2 Case A full-term male Saudi infant presented after delivery with pallor, splenomegaly (6 cm below left costal margin) and a systolic murmur over the left precordium. [annsaudimed.net]

Patients often present with anemia, jaundice, and variable splenomegaly. Most cases of CDA II are diagnosed at a young age; some patients, however, may remain unrecognized until late adulthood. [scholars.northwestern.edu]

Most patients with CDA II show variable degrees of anemia, most are mild, although severe cases are observed, and usually have jaundice, splenomegaly, and may have hepatomegaly [1]. [deepdyve.com]

[…] haematological Phenotypes Anemia of inadequate production ; Autosomal dominant inheritance ; Congenital onset ; Erythroid hyperplasia ; Hepatomegaly ; Hydrops fetalis ; Hyperbilirubinemia ; Hypertrophic cardiomyopathy ; Reticulocytosis ; Short stature ; Splenomegaly [mousephenotype.org]

The CDAN1 gene, located on the long arm of chromosome 15 (15q15.2), encoding codanina-1 protein. Although this protein is present in cells throughout the body, it is known very little about its function. [ivami.com]

The genetic cause of CDA type III is known to be a problem with the KIF23 gene, located on the long arm of chromosome 15 at a position designated 15q22. [ipfs.io]

It likely results from mutations in a gene located on the long arm of chromosome 15 at a position designated 15q22. Researchers continue to search for the specific gene associated with this form of the condition. [ghr.nlm.nih.gov]

The gene responsible for CDA I ( CDAN1 gene) was mapped to the long arm of chromosome 15 between 15q15.1q15.3 by homozygosity mapping performed. [tigem.it]

The SEC23B gene, located on the short arm of chromosome 20 (20p11.23), encodes a component of a large group of proteins that interact calls layer II protein complex (COPII). [ivami.com]

Diamond Blackfan anemia can present at birth, although it usually presents at around three months of age; low birth weight and congenital anomalies of the head (microcephaly, cleft palate, hypertelorism), neck (webbed) and radial aspects of the arm (thumb [oncologynurseadvisor.com]

Meticulously updated, this exciting full-color set brings together the pathophysiology of disease with detailed clinical guidance to provide you with the most comprehensive, authoritative, up-to-date information for diagnosing and treating children. [books.google.com]

Reticulocyte count: • decreased Diamond Blackfan anemia, drugs, marrow infiltration • increased hemolytic anemia (Rh incompatibility, hemoglobinopathy, membrane or enzyme disorder, etc.)2. [oncologynurseadvisor.com]

In summary, three main types of phenotypic abnormality were linked to this disorder: microcytic hypochromic anemia with a high reticulocyte count, decreased β/α ratio, and mildly increased Hb Bart's level; unusual benign changes in erythrocytes, including [nature.com]