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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.

Cat cry

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

MedGen UID:
536297
Concept ID:
C0234861
Sign or Symptom
3.

Primary cortisol resistance

MedGen UID:
443921
Concept ID:
C2930863
Disease or Syndrome
4.

Microcephalus

Occipito-frontal (head) circumference (OFC) less than -3 standard deviations compared to appropriate, age matched, normal standards (Ross JJ, Frias JL 1977, PMID:9683597). Alternatively, decreased size of the cranium. [from HPO]

MedGen UID:
44422
Concept ID:
C0025958
Congenital Abnormality; Disease or Syndrome
5.

Syndrome

A set of symptoms or conditions that occur together and suggest the presence of a certain disease or an increased chance of developing the disease. [from NCI]

MedGen UID:
11688
Concept ID:
C0039082
Disease or Syndrome
6.

Hypertelorism

Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (145410), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995). [from OMIM]

MedGen UID:
9373
Concept ID:
C0020534
Congenital Abnormality; Finding
7.

Newborn

MedGen UID:
745693
Concept ID:
C2239178
Finding
8.

Epicanthus

MedGen UID:
724513
Concept ID:
C1303004
Finding
9.

Rapidly involuting congenital hemangioma

MedGen UID:
698687
Concept ID:
C1275421
Congenital Abnormality; Neoplastic Process
10.

Borries syndrome

MedGen UID:
542920
Concept ID:
C0270677
Disease or Syndrome
11.

Hypertelorism

Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). [from HPO]

MedGen UID:
504419
Concept ID:
CN000296
Finding
12.

Microcephaly

Occipito-frontal (head) circumference (OFC) less than -3 standard deviations compared to appropriate, age matched, normal standards (Ross JJ, Frias JL 1977, PMID:9683597). Alternatively, decreased size of the cranium. [from HPO]

MedGen UID:
473122
Concept ID:
C0424688
Finding
13.

Nonsyndromic microcephaly

MedGen UID:
419828
Concept ID:
C2931527
Disease or Syndrome
14.

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
15.

Collecting duct carcinoma

Also known as collecting duct carcinoma, this is a rare type of renal carcinoma. It arises from the collecting ducts of the renal medulla, and most authors suggest that this is an aggressive tumor. [from NCI]

MedGen UID:
266092
Concept ID:
C1266044
Neoplastic Process
16.

Epicanthus

Epicanthus is a condition in which a fold of skin stretches from the upper to the lower eyelid, partially covering the inner canthus. Usher (1935) noted that epicanthus is a normal finding in the fetus of all races. Epicanthus also occurs in association with hereditary ptosis (110100). [from OMIM]

MedGen UID:
151862
Concept ID:
C0678230
Congenital Abnormality
17.

Short arm

MedGen UID:
98429
Concept ID:
C0426857
Finding
18.

Distal

Localized away from the central point of the body. [from HPO]

MedGen UID:
64375
Concept ID:
C0205108
Spatial Concept
19.

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
20.

Intellectual functioning 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 disabiled range. (from Joynt, Clinical Neurology, 1992, Ch55, p28) [from MeSH]

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