MICROCEPHALY, GROWTH RETARDATION, CATARACT, HEARING LOSS, AND UNUSUALAPPEARANCE

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 35
OrphanetNr:
OMIM Id: 612947
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:0003241) External genital hypoplasia 25 / 7739
2
 (HPO:0000028) Cryptorchidism 347 / 7739
3
 (HPO:0000252) Microcephaly 832 / 7739
4
 (HPO:0000414) Bulbous nose 63 / 7739
5
 (HPO:0000455) Broad nasal tip 67 / 7739
6
 (HPO:0000286) Epicanthus 371 / 7739
7
 (HPO:0000278) Retrognathia 100 / 7739
8
 (HPO:0000518) Cataract 454 / 7739
9
 (HPO:0000365) Hearing impairment 539 / 7739
10
 (HPO:0001250) Seizures 1245 / 7739
11
 (HPO:0001263) Global developmental delay 853 / 7739
12
 (HPO:0001327) Photomyoclonic seizures 125 / 7739
13
 (HPO:0002750) Delayed skeletal maturation 250 / 7739
14
 (HPO:0004279) Short palm 323 / 7739
15
 (HPO:0001831) Short toe 52 / 7739
16
 (HPO:0008897) Postnatal growth retardation 113 / 7739
17
 (HPO:0004322) Short stature 1232 / 7739
18
 (HPO:0004325) Decreased body weight 492 / 7739
19
 (HPO:0000958) Dry skin 152 / 7739
20
 (HPO:0000964) Eczema 81 / 7739
21
 (HPO:0000969) Edema 117 / 7739
22
 (OMIM) Generalized shortening of the long bones 1 / 7739
23
 (OMIM) Hypoplasia of the alae nasi 1 / 7739
24
 (OMIM) Almond-shaped eyes 12 / 7739
25
 (OMIM) Simple ear structure 1 / 7739
26
 (OMIM) Hearing loss, perceptive 3 / 7739
27
 (OMIM) Egg allergy 1 / 7739
28
 (OMIM) Nut allergy 1 / 7739
29
 (OMIM) Poor enamel 1 / 7739
30
 (OMIM) Edema on the dorsum of the hands and feet 1 / 7739
31
 (OMIM) Broad metaphyses 2 / 7739
32
 (OMIM) Short hands and fingers 1 / 7739
33
 (HPO:0002283) Global brain atrophy 12 / 7739
34
 (OMIM) Dog allergy 1 / 7739
35
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Hansen et al. (2009) reported a sister and brother of Danish descent with microcephaly, postnatal growth retardation, delayed development, cataracts, and hearing loss. Both had a distinctive facial appearance, with almond-shaped eyes, upslanting palpebral fissures, epicanthus, bulbous nose, ...