Microcephalic Osteodysplastic Primordial Dwarfism Type 1
What's New
Last Posted: Feb 27, 2023
- Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation.
Abdel-Salam Ghada M H, et al. American journal of medical genetics. Part A 2020 0 (6) 1407-1420 - Clinical relevance of targeted exome sequencing in patients with rare syndromic short stature.
Kamil Gilyazetdinov, et al. Orphanet journal of rare diseases 2021 0 (1) 297 - Genetic characterization of short stature patients with overlapping features of growth hormone insensitivity syndromes.
Andrews Afiya et al. The Journal of clinical endocrinology and metabolism 2021 - Microcephalic osteodysplastic primordial dwarfism type 1
From NCATS Genetic and Rare Diseases Information Center - Microcephalic osteodysplastic primordial dwarfism type 2
From NCATS Genetic and Rare Diseases Information Center
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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- Page last reviewed:Feb 1, 2024
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