Premature chromosome condensation with microcephaly and intellectual deficit

General Information (adopted from Orphanet):

Synonyms, Signs: PREMATURE CHROMOSOME CONDENSATION WITH MICROCEPHALY AND MENTAL RETARDATION
PREMATURE CHROMOSOME CONDENSATION SYNDROME
PCC SYNDROME
MCPH1
Number of Symptoms 18
OrphanetNr: 52183
OMIM Id: 251200
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000069) Abnormality of the ureter Frequent [Orphanet] 47 / 7739
2
(HPO:0008678) Renal hypoplasia/aplasia Frequent [Orphanet] 127 / 7739
3
(HPO:0000252) Microcephaly Very frequent [Orphanet] 832 / 7739
4
(HPO:0000233) Thin vermilion border Very frequent [Orphanet] 124 / 7739
5
(HPO:0000494) Downslanted palpebral fissures Very frequent [Orphanet] 328 / 7739
6
(HPO:0000340) Sloping forehead Very frequent [Orphanet] 86 / 7739
7
(HPO:0001250) Seizures 1245 / 7739
8
(HPO:0001327) Photomyoclonic seizures 125 / 7739
9
(HPO:0001347) Hyperreflexia Frequent [Orphanet] 363 / 7739
10
(HPO:0003103) Abnormal cortical bone morphology Frequent [Orphanet] 38 / 7739
11
(HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
12
(HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
13
(OMIM) Disproportionately small cerebral cortex 1 / 7739
14
(HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Frequent [Orphanet] 180 / 7739
15
(OMIM) Mental retardation, mild to severe 14 / 7739
16
(HPO:0002119) Ventriculomegaly Frequent [Orphanet] 253 / 7739
17
(OMIM) Decreased brain weight 1 / 7739
18
(OMIM) Premature chromosome condensation 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Primary microcephaly refers to the clinical finding of a head circumference less than 3 standard deviations (SD) below the age- and sex-related mean, present at birth. Primary microcephaly is a static developmental anomaly, distinguished from secondary microcephaly, which ...
Clinical Description OMIM Primary or true microcephaly is different from microcephaly secondary to degenerative brain disorder (Cowie, 1960). In true microcephaly, there is no neurologic defect, other than mental deficiency, and no skeletal or other malformation. The differentiation of primary and ...
Molecular genetics OMIM In 2 families with primary microcephaly sharing an ancestral 8p23 haplotype, Jackson et al. (2002) identified a homozygous mutation in the microcephalin gene (S25X; 607117.0001). All 7 affected individuals were homozygous for the mutation, and their 8 unaffected ...
Population genetics OMIM In the Netherlands, the frequency of true microcephaly was placed at about 1 in 250,000 by Van den Bosch (1959).

Scala et al. (2010) found no mutations in the MCPH1 gene in a large cohort of ...