Autosomal dominant microcephaly

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 20
OrphanetNr: 2514
OMIM Id: 156580
ICD-10: Q02
UMLs: C0220693
MeSH: C537323
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare genetic disease
Isolated congenital microcephaly
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease
Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000601) Hypotelorism 83 / 7739
2
 (HPO:0000639) Nystagmus Occasional [Orphanet] 555 / 7739
3
 (HPO:0000666) Horizontal nystagmus 32 / 7739
4
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
5
 (HPO:0001137) Alternating esotropia 4 / 7739
6
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
7
 (HPO:0011304) Broad thumb 39 / 7739
8
 (HPO:0010055) Broad hallux 56 / 7739
9
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
10
 (HPO:0000340) Sloping forehead 86 / 7739
11
 (HPO:0000582) Upslanted palpebral fissure 185 / 7739
12
 (HPO:0009804) Reduced number of teeth Very frequent [Orphanet] 137 / 7739
13
 (HPO:0011094) Overbite 5 / 7739
14
 (HPO:0000411) Protruding ear Occasional [Orphanet] 140 / 7739
15
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
16
 (OMIM) Broad thumbs and great toes 1 / 7739
17
 (OMIM) Maxillary overbite 1 / 7739
18
 (OMIM) Normal intelligence, occasional mild mental retardation 1 / 7739
19
 (OMIM) Philtrum fullness 1 / 7739
20
 (OMIM) Receding or small forehead 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Microcephaly strictly means abnormally small head size, but usually refers to an occipitofrontal head circumference below -2 SD from the mean for the infant's gestational age, sex, and ethnic origin. Microcephaly may appear as an isolated trait or ...
Clinical Description OMIM Rossi and Battilana (1982) reported microcephaly in 5 females in 3 generations. Intelligence was normal. Ramirez et al. (1983) described 13 cases of 'silent microcephaly' (microcephaly without neurologic or dysmorphic features and without mental retardation) in 3 unrelated ...