He received his certification in Neuropathology from the American Board of Pathology in 1972 and the Royal College of Physicians and Surgeons of Canada in 1973. Dr. [books.google.de]

In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. [rarediseases.info.nih.gov]

In a subset of cases, further communication between the laboratory director and ordering physician is necessary to guide additional studies and assist in interpretation. [currents.plos.org]

[…] peritoneal carcinoma Short stature due to partial GHR deficiency Heritable pulmonary arterial hypertension Congenital bilateral absence of vas deferens Cystic fibrosis Hereditary chronic pancreatitis Idiopathic bronchiectasis Male infertility with normal virilization [csbg.cnb.csic.es]

Showing of 11 Percent of people who have these symptoms is not available through HPO Autosomal recessive inheritance 0000007 Central apnea 0002871 Cerebral dysmyelination 0007266 Death in childhood 0003819 Global brain atrophy Generalized brain degeneration [rarediseases.info.nih.gov]

Affiliated tissues include brain, and related phenotypes are respiratory insufficiency and hypertonia [malacards.org]

insufficiency Respiratory impairment 0002093 Showing of 11 Last updated: 5/1/2019 Making a diagnosis for a genetic or rare disease can often be challenging. [rarediseases.info.nih.gov]

Symptoms begin in infancy and include failure to thrive, vomiting, painful and progressively deformed joints, subcutaneous nodules that are especially prominent near joints, and laryngeal involvement with hoarseness and respiratory insufficiency. [basicmedicalkey.com]

3 LAMB-2-related infantile-onset nephrotic syndrome Muscular dystrophy, Selcen type Pierson syndrome Synaptic congenital myasthenic syndromes Autosomal dominant Charcot-Marie-Tooth disease type 2K Autosomal recessive Charcot-Marie-Tooth disease with hoarseness [csbg.cnb.csic.es]

Symptoms begin in infancy and include failure to thrive, vomiting, painful and progressively deformed joints, subcutaneous nodules that are especially prominent near joints, and laryngeal involvement with hoarseness and respiratory insufficiency. [basicmedicalkey.com]

- GeneReviews Hypogonadotropic hypogonadism 21 with or without anosmia Hypogonadotropic hypogonadism 21 with or without anosmia MedGen Autosomal dominant prognathism Autosomal dominant prognathism MedGen [Treatment of iatrogenic Cushing syndrome: questions [ncbi.nlm.nih.gov]

[…] with or without Anosmia 1 Hypogonadotropic Hypogonadism 20 with or without Anosmia 1 Hypogonadotropic Hypogonadism 21 with Anosmia 1 Hypogonadotropic Hypogonadism 22, with or without Anosmia 1 Hypogonadotropic Hypogonadism 7 with or without Anosmia 7 [preventiongenetics.com]

- GeneReviews Hypogonadotropic hypogonadism 21 with or without anosmia Hypogonadotropic hypogonadism 21 with or without anosmia MedGen Autosomal dominant prognathism Autosomal dominant prognathism MedGen [Treatment of iatrogenic Cushing syndrome: questions [ncbi.nlm.nih.gov]

Xanthoma tuberosum References Diaz-Font et al., (2005) Hum Genet 117:275- 277. [genedx.com]

[…] floating-betalipoproteinemia, Combined hyperlipidemia, Elevated cholesterol with elevated triglycerides NEC, Fredrickson Type IIb or III hyperlipoproteinemia, Hypercholesterolemia with endogenous hyperglyceridemia, Hyperbetalipoproteinemia with prebetalipoproteinemia, Tubo-eruptive [genedx.com]

Clinical features include neurologic regression around age 3 months, loss of spontaneous movements, hyporeflexia, generalized brain atrophy, and diffuse white matter dysmyelination. [uniprot.org]

[…] have these symptoms is not available through HPO Autosomal recessive inheritance 0000007 Central apnea 0002871 Cerebral dysmyelination 0007266 Death in childhood 0003819 Global brain atrophy Generalized brain degeneration 0002283 Hypertonia 0001276 Hyporeflexia [rarediseases.info.nih.gov]

Decreased reflexes [ more ] 0001265 Increased CSF protein 0002922 Infantile onset Onset in first year of life Onset in infancy [ more ] 0003593 Respiratory failure 0002878 Respiratory insufficiency Respiratory impairment 0002093 Showing of 11 Last updated [rarediseases.info.nih.gov]

330.0 Leukodystrophy 272.7 Lipidoses (Fabry Disease) 272.2 Mixed hyperlipidemia, Broad- or floating-betalipoproteinemia, Combined hyperlipidemia, Elevated cholesterol with elevated triglycerides NEC, Fredrickson Type IIb or III hyperlipoproteinemia, Hypercholesterolemia [genedx.com]

Autosomal Dominant, 3 2 Hypercholesterolemia, Autosomal Dominant, Type B 2 Hypercholesterolemia, Autosomal Recessive 2 Hyperferritinemia Cataract Syndrome 1 Hyperimmunoglobulin D With Periodic Fever 3 Hyperimmunoglobulin E Recurrent Infection Syndrome [preventiongenetics.com]