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Items: 20

1.

5p partial monosomy syndrome

Cri-du-chat syndrome was first described by Lejeune et al. (1963) as a hereditary congenital syndrome associated with deletion of part of the short arm of chromosome 5. The deletions can vary in size from extremely small and involving only band 5p15.2 to the entire short arm. Although the majority of deletions arise as new mutations, approximately 12% result from unbalanced segregation of translocations or recombination involving a pericentric inversion in one of the parents. [from OMIM]

MedGen UID:
41345
Concept ID:
C0010314
Congenital Abnormality; Disease or Syndrome
2.

Intellectual functioning disability

Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70. [from HPO]

MedGen UID:
7544
Concept ID:
C0025362
Mental or Behavioral Dysfunction
3.

Dysmorphism

MedGen UID:
832917
Concept ID:
CN228290
Finding
4.

Hallucinations

MedGen UID:
776581
Concept ID:
C2364080
Finding
5.

Abnormal facial shape

An abnormal morphology (form) of the face or its components. [from HPO]

MedGen UID:
505048
Concept ID:
CN001810
Finding
6.

Microcephaly

MedGen UID:
473122
Concept ID:
C0424688
Finding
7.

Cat cry

The presence of a characteristic high-pitched cry that sounds similar to the meowing of a kitten. [from HPO]

MedGen UID:
452088
Concept ID:
CN117787
Finding
8.

Nonsyndromic microcephaly

MedGen UID:
419828
Concept ID:
C2931527
Disease or Syndrome
9.

Intellectual disability

MedGen UID:
334384
Concept ID:
C1843367
Finding
10.

Mild

Mild; asymptomatic or mild symptoms; clinical or diagnostic observations only; intervention not indicated. [from SNOMEDCT_US]

MedGen UID:
268697
Concept ID:
C1513302
Finding
11.

facial dysmorphism

MedGen UID:
120588
Concept ID:
C0266617
Congenital Abnormality
12.

Hereditary disease

Genes are the building blocks of heredity. They are passed from parent to child. They hold DNA, the instructions for making proteins. Proteins do most of the work in cells. They move molecules from one place to another, build structures, break down toxins, and do many other maintenance jobs. Sometimes there is a mutation, a change in a gene or genes. The mutation changes the gene's instructions for making a protein, so the protein does not work properly or is missing entirely. This can cause a medical condition called a genetic disorder. You can inherit a gene mutation from one or both parents. A mutation can also happen during your lifetime. There are three types of genetic disorders:. -Single-gene disorders, where a mutation affects one gene. Sickle cell anemia is an example. -Chromosomal disorders, where chromosomes (or parts of chromosomes) are missing or changed. Chromosomes are the structures that hold our genes. Down syndrome is a chromosomal disorder. -Complex disorders, where there are mutations in two or more genes. Often your lifestyle and environment also play a role. Colon cancer is an example. Genetic tests on blood and other tissue can identify genetic disorders. NIH: National Library of Medicine.  [from MedlinePlus]

MedGen UID:
5527
Concept ID:
C0019247
Disease or Syndrome
13.

Inborn genetic diseases

Diseases that are caused by genetic mutations present during embryo or fetal development, although they may be observed later in life. The mutations may be inherited from a parent's genome or they may be acquired in utero. [from MeSH]

MedGen UID:
181981
Concept ID:
C0950123
Disease or Syndrome
14.

Intellectual disability, profound

Profound mental retardation is defined as an intelligence quotient (IQ) below 20. [from HPO]

MedGen UID:
43816
Concept ID:
C0020796
Finding; Mental or Behavioral Dysfunction
15.

Mental disorder

Mental disorders include a wide range of problems, including. -Anxiety disorders, including panic disorder, obsessive-compulsive disorder, post-traumatic stress disorder, and phobias. -Bipolar disorder. -Depression. -Mood disorders. -Personality disorders. -Psychotic disorders, including schizophrenia. There are many causes of mental disorders. Your genes and family history may play a role. Your life experiences, such as stress or a history of abuse, may also matter. Biological factors can also be part of the cause. A traumatic brain injury can lead to a mental disorder. A mother's exposure to viruses or toxic chemicals while pregnant may play a part. Other factors may increase your risk, such as use of illegal drugs or having a serious medical condition like cancer. Medications and counseling can help many mental disorders. .  [from MedlinePlus]

MedGen UID:
14047
Concept ID:
C0004936
Mental or Behavioral Dysfunction
16.

Multiple congenital anomalies

MedGen UID:
7806
Concept ID:
C0000772
Congenital Abnormality
17.

Congenital chromosomal disease

Clinical conditions caused by an abnormal chromosome constitution in which there is extra or missing chromosome material (either a whole chromosome or a chromosome segment). (from Thompson et al., Genetics in Medicine, 5th ed, p429) [from MeSH]

MedGen UID:
3441
Concept ID:
C0008626
Congenital Abnormality; Disease or Syndrome
18.

Intellectual disability (moderate)

MedGen UID:
881155
Concept ID:
CN236729
Finding
19.

Intellectual disability, moderate

Moderate mental retardation is defined as an intelligence quotient (IQ) in the range of 35-49. [from HPO]

MedGen UID:
505205
Concept ID:
CN002126
Finding
20.

Chromosome 5, trisomy 5p

MedGen UID:
419839
Concept ID:
C2931575
Cell or Molecular Dysfunction
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