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Medical genetics: Lamb-Shaffer syndrome is a rare autosomal dominant condition. [1] ... Symptoms of Lamb-Shaffer syndrome include fine and gross motor delays, speech ...
Mutations in the SOX5 gene can cause Lamb-Shaffer syndrome. See also. SOX genes; References Further reading. This page was last edited on 16 November 2021, at 18:36 ...
Carney complex and its subsets LAMB syndrome [1] and NAME syndrome [1] are autosomal dominant conditions comprising myxomas of the heart and skin, hyperpigmentation of the skin (lentiginosis), and endocrine overactivity. [2] [3] It is distinct from Carney's triad. Approximately 7% of all cardiac myxomas are associated with Carney complex. [4]
Pages in category "Genetic syndromes" The following 164 pages are in this category, out of 164 total. ... L1 syndrome; Lamb-Shaffer syndrome; Liebenberg syndrome;
Potocki–Lupski syndrome; Potocki–Shaffer syndrome; Potter sequence; Prader–Willi syndrome; Pre-excitation syndrome; Precordial catch syndrome; Premenstrual syndrome; Presumed ocular histoplasmosis syndrome; Pretzel syndrome; Primary pigmented nodular adrenocortical disease; Primrose syndrome; Progeroid syndromes; Progressive supranuclear ...
Sonja Rasmussen, M.D., professor of genetic medicine at the Johns Hopkins University School of Medicine, explains how Down syndrome and mosaic Down syndrome differ. “Typically, we all have 46 ...
Here's how kids with the genetic disorder are reacting. Jamie Davis Smith. ... Based on input from NDSS, the new Barbie with Down syndrome includes “a single line in the doll’s palm, a body ...
Camptodactyly-taurinuria syndrome; Camurati–Engelmann disease; CAPOS syndrome; Central core disease; Cerebro-costo-mandibular syndrome; Cochleosaccular degeneration with progressive cataracts; Cohen–Gibson syndrome; Collagen disease; Collagenopathy, types II and XI; Collins–Pope syndrome; Coloboma of macula-brachydactyly type B syndrome