MCID: MCR351
MIFTS: 17

Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance

Aliases & Classifications for Microcephaly, Growth Retardation, Cataract, Hearing Loss, and...

MalaCards integrated aliases for Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance:

Name: Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
two sibs, a boy and a girl, have been reported (as of july 2009)


HPO:

33
microcephaly, growth retardation, cataract, hearing loss, and unusual appearance:
Inheritance autosomal recessive inheritance


Summaries for Microcephaly, Growth Retardation, Cataract, Hearing Loss, and...

MalaCards based summary : Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance is related to ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus and cataract. Affiliated tissues include skin, brain and bone, and related phenotypes are seizures and hearing impairment

Description from OMIM: 612947

Related Diseases for Microcephaly, Growth Retardation, Cataract, Hearing Loss, and...

Diseases related to Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.3
2 cataract 10.3
3 microcephaly 10.3

Symptoms & Phenotypes for Microcephaly, Growth Retardation, Cataract, Hearing Loss, and...

Human phenotypes related to Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance:

33 (show all 22)
# Description HPO Frequency HPO Source Accession
1 seizures 33 HP:0001250
2 hearing impairment 33 HP:0000365
3 cataract 33 HP:0000518
4 global developmental delay 33 HP:0001263
5 delayed skeletal maturation 33 HP:0002750
6 microcephaly 33 HP:0000252
7 short stature 33 HP:0004322
8 edema 33 HP:0000969
9 retrognathia 33 HP:0000278
10 short palm 33 HP:0004279
11 epicanthus 33 HP:0000286
12 cryptorchidism 33 HP:0000028
13 dry skin 33 HP:0000958
14 postnatal growth retardation 33 HP:0008897
15 short toe 33 HP:0001831
16 broad nasal tip 33 HP:0000455
17 bulbous nose 33 HP:0000414
18 eczema 33 HP:0000964
19 decreased body weight 33 HP:0004325
20 external genital hypoplasia 33 HP:0003241
21 global brain atrophy 33 HP:0002283
22 allergy 33 HP:0012393

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
microcephaly

Head And Neck Face:
retrognathia

Skin Nails Hair Skin:
dry skin
eczema
edema on the dorsum of the hands and feet

Head And Neck Nose:
broad nasal tip
bulbous nose
hypoplasia of the alae nasi

Skeletal:
delayed bone age

Neurologic Central Nervous System:
delayed psychomotor development
generalized brain atrophy
seizures (in 1 patient)

Genitourinary External Genitalia Female:
genital hypoplasia

Head And Neck Ears:
simple ear structure
hearing loss, perceptive

Skeletal Hands:
short hands and fingers

Growth Height:
short stature

Genitourinary External Genitalia Male:
cryptorchidism
genital hypoplasia

Growth Other:
postnatal growth retardation

Head And Neck Eyes:
epicanthal folds
cataracts
almond-shaped eyes

Growth Weight:
low weight

Skeletal Feet:
short toes

Skeletal Limbs:
broad metaphyses
generalized shortening of the long bones

Head And Neck Teeth:
poor enamel

Immunology:
egg allergy
dog allergy
nut allergy

Clinical features from OMIM:

612947

Drugs & Therapeutics for Microcephaly, Growth Retardation, Cataract, Hearing Loss, and...

Search Clinical Trials , NIH Clinical Center for Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance

Genetic Tests for Microcephaly, Growth Retardation, Cataract, Hearing Loss, and...

Anatomical Context for Microcephaly, Growth Retardation, Cataract, Hearing Loss, and...

MalaCards organs/tissues related to Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance:

42
Skin, Brain, Bone, Eye

Publications for Microcephaly, Growth Retardation, Cataract, Hearing Loss, and...

Articles related to Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance:

# Title Authors Year
1
Two siblings with microcephaly, growth retardation, cataract, hearing loss, and unusual appearance. ( 19474705 )
2009

Variations for Microcephaly, Growth Retardation, Cataract, Hearing Loss, and...

Expression for Microcephaly, Growth Retardation, Cataract, Hearing Loss, and...

Search GEO for disease gene expression data for Microcephaly, Growth Retardation, Cataract, Hearing Loss, and Unusual Appearance.

Pathways for Microcephaly, Growth Retardation, Cataract, Hearing Loss, and...

GO Terms for Microcephaly, Growth Retardation, Cataract, Hearing Loss, and...

Sources for Microcephaly, Growth Retardation, Cataract, Hearing Loss, and...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....