STARGARDT MACULAR DEGENERATION, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM,MENTAL RETARDATION, AND DYSMORPHIC FEATURES

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 26
OrphanetNr:
OMIM Id: 612948
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:0000307) Pointed chin 45 / 7739
2
(HPO:0011229) Broad eyebrow 9 / 7739
3
(HPO:0000219) Thin upper lip vermilion 112 / 7739
4
(HPO:0000218) High palate 356 / 7739
5
(HPO:0000319) Smooth philtrum 72 / 7739
6
(HPO:0000455) Broad nasal tip 67 / 7739
7
(HPO:0000678) Dental crowding 65 / 7739
8
(HPO:0000582) Upslanted palpebral fissure 185 / 7739
9
(HPO:0000293) Full cheeks 85 / 7739
10
(HPO:0000608) Macular degeneration 36 / 7739
11
(HPO:0000486) Strabismus 576 / 7739
12
(HPO:0009748) Large earlobe 27 / 7739
13
(HPO:0008527) Congenital sensorineural hearing impairment 165 / 7739
14
(HPO:0008625) Severe sensorineural hearing impairment 150 / 7739
15
(HPO:0000407) Sensorineural hearing impairment 524 / 7739
16
(HPO:0001263) Global developmental delay 853 / 7739
17
(HPO:0000817) Poor eye contact 26 / 7739
18
(HPO:0001249) Intellectual disability 1089 / 7739
19
(HPO:0004209) Clinodactyly of the 5th finger 288 / 7739
20
(HPO:0001763) Pes planus 176 / 7739
21
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
22
(OMIM) Overcrowded teeth 3 / 7739
23
(OMIM) Bow-shaped upper lip 1 / 7739
24
(OMIM) Stargardt macular degeneration 1 / 7739
25
(HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
26
(HPO:0001274) Agenesis of corpus callosum 142 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Descartes et al. (2009) reported a brother and sister with Stargardt macular degeneration (see STGD; 248200), mental retardation, and dysmorphic features. Facial features included flared eyebrows, upslanted palpebral fissures, prominent ear lobules, broad nasal tip, overcrowded teeth, high-arched ...