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1.

Intellectual disability

Subnormal intellectual functioning which originates during the developmental period. This has multiple potential etiologies, including genetic defects and perinatal insults. Intelligence quotient (IQ) scores are commonly used to determine whether an individual has an intellectual disability. IQ scores between 70 and 79 are in the borderline range. Scores below 67 are in the disabled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28) [from MeSH]

MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
2.

Intellectual 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:
334384
Concept ID:
C1843367
Finding
3.

Autosomal recessive inheritance

A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). [from HPO]

MedGen UID:
141025
Concept ID:
C0441748
Genetic Function; Intellectual Product
4.

Disability

Disabilities make it harder to do normal daily activities. They may limit what you can do physically or mentally, or they can affect your senses. Disability doesn't mean unable, and it isn't a sickness. Most people with disabilities can - and do - work, play, learn, and enjoy full, healthy lives. Mobility aids and assistive devices can make daily tasks easier. About one in every five people in the United States has a disability. Some people are born with one. Others have them as a result of an illness or injury. Some people develop them as they age. Almost all of us will have a disability at some point in our lives. Department of Health and Human Services.  [from MedlinePlus]

MedGen UID:
66657
Concept ID:
C0231170
Finding
5.

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
6.

Methylation

The covalent chemical or biochemical addition of a methyl group(s) to a compound. (NCI) [from NCI]

MedGen UID:
44400
Concept ID:
C0025723
Molecular Function
7.

Dysmorphism

MedGen UID:
832917
Concept ID:
CN228290
Finding
8.

severe ID

MedGen UID:
807543
Concept ID:
CN219809
Finding
9.

Short chin

Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin. [from HPO]

MedGen UID:
784514
Concept ID:
C3697248
Finding
10.

Dysmorphism

MedGen UID:
740569
Concept ID:
C1737329
Congenital Abnormality
11.

Independent

MedGen UID:
721426
Concept ID:
C1299583
Finding
12.

Moderate

Having a medium degree of severity. For quantitative traits, a deviation of between three and four standard deviations from the appropriate population mean. [from HPO]

MedGen UID:
525853
Concept ID:
C0205081
Qualitative Concept
13.

Mental retardation, autosomal recessive 5

MedGen UID:
370849
Concept ID:
C1970199
Disease or Syndrome
14.

Long nose

Distance from nasion to subnasale more than two standard deviations above the mean, or alternatively, an apparently increased length from the nasal root to the nasal base. [from HPO]

MedGen UID:
326583
Concept ID:
C1839798
Finding
15.

Long face

Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective). [from HPO]

MedGen UID:
324419
Concept ID:
C1836047
Finding
16.

facial dysmorphism

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

MedGen UID:
120588
Concept ID:
C0266617
Congenital Abnormality
17.

Severe

Having a high degree of severity. For quantitative traits, a deviation of between four and five standard deviations from the appropriate population mean. [from HPO]

MedGen UID:
104640
Concept ID:
C0205082
Qualitative Concept
18.

Abnormal facial shape

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

MedGen UID:
98409
Concept ID:
C0424503
Finding
19.

Craniofacial Abnormalities

Craniofacial is a medical term that relates to the bones of the skull and face. Craniofacial abnormalities are birth defects of the face or head. Some, like cleft lip and palate, are among the most common of all birth defects. Others are very rare. Most of them affect how a person's face or head looks. These conditions may also affect other parts of the body. Treatment depends on the type of problem. Plastic and reconstructive surgery may help the person's appearance.  [from MedlinePlus]

MedGen UID:
91281
Concept ID:
C0376634
Congenital Abnormality
20.

Heterogeneous

The presence of apparently similar characters for which the genetic evidence indicates that different genes or different genetic mechanisms are involved in different pedigrees. In clinical settings genetic heterogeneity refers to the presence of a variety of genetic defects which cause the same disease, often due to mutations at different loci on the same gene, a finding common to many human diseases including ALZHEIMER DISEASE; CYSTIC FIBROSIS; LIPOPROTEIN LIPASE DEFICIENCY, FAMILIAL; and POLYCYSTIC KIDNEY DISEASES. (Rieger, et al., Glossary of Genetics: Classical and Molecular, 5th ed; Segen, Dictionary of Modern Medicine, 1992) [from MeSH]

MedGen UID:
67020
Concept ID:
C0242960
Organism Attribute
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