MICROHYDRANENCEPHALY

General Information (adopted from Orphanet):

Synonyms, Signs: HYDRANENCEPHALY AND MICROCEPHALY
MHAC
Number of Symptoms 25
OrphanetNr:
OMIM Id: 605013
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: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000520) Proptosis 192 / 7739
2
(HPO:0000252) Microcephaly 832 / 7739
3
(HPO:0000426) Prominent nasal bridge 121 / 7739
4
(HPO:0000340) Sloping forehead 86 / 7739
5
(HPO:0000400) Macrotia 108 / 7739
6
(HPO:0006887) Intellectual disability, progressive 68 / 7739
7
(HPO:0002123) Generalized myoclonic seizures 62 / 7739
8
(HPO:0001347) Hyperreflexia 363 / 7739
9
(HPO:0000742) Self-mutilation 27 / 7739
10
(HPO:0001263) Global developmental delay 853 / 7739
11
(HPO:0002510) Spastic tetraplegia 54 / 7739
12
(HPO:0010864) Intellectual disability, severe 120 / 7739
13
(HPO:0002305) Athetosis 31 / 7739
14
(HPO:0001762) Talipes equinovarus 309 / 7739
15
(HPO:0002828) Multiple joint contractures 16 / 7739
16
(HPO:0004322) Short stature 1232 / 7739
17
(HPO:0003202) Skeletal muscle atrophy 281 / 7739
18
(HPO:0001274) Agenesis of corpus callosum 142 / 7739
19
(HPO:0001302) Pachygyria 60 / 7739
20
(OMIM) Exophthalmia 3 / 7739
21
(HPO:0002365) Hypoplasia of the brainstem 41 / 7739
22
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
23
(HPO:0001321) Cerebellar hypoplasia 114 / 7739
24
(HPO:0002324) Hydranencephaly 9 / 7739
25
(HPO:0002119) Ventriculomegaly 253 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Kavaslar et al. (2000) reported a large consanguineous Anatolian (Turkish) family with children who had the unusual association of microcephaly and hydranencephaly. In addition, the affected children had severe mental and motor retardation, very small body size, and ...