MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE

General Information (adopted from Orphanet):

Synonyms, Signs: MGCPH
Number of Symptoms 19
OrphanetNr:
OMIM Id: 248000
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000256) Macrocephaly 298 / 7739
2
(HPO:0000268) Dolichocephaly 144 / 7739
3
(HPO:0000307) Pointed chin 45 / 7739
4
(HPO:0000280) Coarse facial features 189 / 7739
5
(HPO:0000337) Broad forehead 116 / 7739
6
(HPO:0000303) Mandibular prognathia 179 / 7739
7
(HPO:0000648) Optic atrophy 238 / 7739
8
(HPO:0000545) Myopia rare [HPO:skoehler] 286 / 7739
9
(HPO:0000483) Astigmatism rare [HPO:skoehler] 67 / 7739
10
(HPO:0001263) Global developmental delay 853 / 7739
11
(HPO:0000750) Delayed speech and language development 197 / 7739
12
(HPO:0000709) Psychosis rare [HPO:skoehler] 61 / 7739
13
(HPO:0001249) Intellectual disability 1089 / 7739
14
(HPO:0008239) Adrenal medullary hypoplasia 1 / 7739
15
(HPO:0010499) Patellar subluxation rare [HPO:skoehler] 3 / 7739
16
(HPO:0003011) Abnormality of the musculature 47 / 7739
17
(OMIM) Underdeveloped skeletal musculature 1 / 7739
18
(OMIM) Underdeveloped brain precentral area 1 / 7739
19
(HPO:0001355) Megalencephaly 39 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Walsh (1957) described 3 affected sibs with normal parents. At least 2 of the 3 were female. Mental defect and optic atrophy were present. In another family 2 sibs may have been affected. Distinguishing between macrocephaly and megalencephaly ...
Molecular genetics OMIM In 2 sibs, born of consanguineous parents, with megalencephaly and intellectual disability, Capo-Chichi et al. (2013) identified a homozygous truncating mutation in the TBC1D7 gene (612655.0001). The mutation was found by homozygosity mapping combined with exome sequencing. Patient ...