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Congenital adrenal hyperplasia (CAH) Congenital central hypoventilation syndrome; Congenital diaphragmatic hernia (CDH) Congenital Disorder of Glycosylation (CDG) Congenital hyperinsulinism; Congenital insensitivity to pain with anhidrosis (CIPA) Congenital pulmonary airway malformation (CPAM) Conjoined twins; Costello syndrome; Craniopagus ...
This list is incomplete; you can help by adding missing items. ( May 2016 ) Fetal abnormalities are conditions that affect a fetus or embryo , are able to be diagnosed prenatally, and may be fatal or cause disease after birth.
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child. There are over 6,000 known genetic disorders in humans.
The following disorders are additional conditions that may be detected by screening. Many are listed as "secondary targets" by the 2005 ACMG report. [1] Some states are now screening for more than 50 congenital conditions. Many of these are rare and unfamiliar to pediatricians and other primary health care professionals. [1] Blood cell disorders
Print/export Download as PDF; ... Congenital disorders; Congenital insensitivity to pain with anhidrosis; ... List of diseases
Download as PDF; Printable version ... This is a list of diseases starting with the letter "A". Aa–Ab. Aagenaes syndrome ... congenital; Antisocial personality ...
Neuronal intranuclear hyaline inclusion disease; Neuronal intranuclear inclusion disease; Neuropathy ataxia and retinis pigmentosa; Neuropathy congenital sensory neurotrophic keratitis; Neuropathy hereditary with liability to pressure palsies; Neuropathy motor sensory type 2 deafness mental retardation; Neuropathy sensory spastic paraplegia
Download as PDF; Printable version; ... This is a list of diseases starting with the letter "S". Sa. Saa–Sal; Sam–Say ... abnormal face congenital heart disease;
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