Microphthalmia, Lenz type

General Information (adopted from Orphanet):

Synonyms, Signs: Lenz microphthalmia
Number of Symptoms 42
OrphanetNr: 568
OMIM Id: 300166
309800
ICD-10: Q11.2
UMLs:
MeSH:
MedDRA:
Snomed: 438504004

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked recessive
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare genetic disease
Lens shape anomaly
 -Rare eye disease
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome - variable intellectual deficit
 -Rare developmental defect during embryogenesis
Nonsyndromic developmental defect of the eye
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
Syndromic microphthalmia
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
X-linked syndromic intellectual deficit
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0000072) Hydroureter Frequent [Orphanet] 146 / 7739
2
(HPO:0000047) Hypospadias Frequent [Orphanet] 250 / 7739
3
(HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
4
(HPO:0008714) Ureterovesical stenosis Frequent [Orphanet] 10 / 7739
5
(HPO:0008678) Renal hypoplasia/aplasia Frequent [Orphanet] 127 / 7739
6
(HPO:0000684) Delayed eruption of teeth Occasional [Orphanet] 117 / 7739
7
(HPO:0000202) Oral cleft Frequent [Orphanet] 120 / 7739
8
(HPO:0000315) Abnormality of the orbital region Occasional [Orphanet] 18 / 7739
9
(HPO:0000164) Abnormality of the teeth Frequent [Orphanet] 291 / 7739
10
(HPO:0000252) Microcephaly Frequent [Orphanet] 832 / 7739
11
(HPO:0000465) Webbed neck Occasional [Orphanet] 81 / 7739
12
(HPO:0006482) Abnormality of dental morphology Frequent [Orphanet] 81 / 7739
13
(HPO:0000501) Glaucoma Frequent [Orphanet] 180 / 7739
14
(HPO:0008056) Aplasia/Hypoplasia affecting the eye Very frequent [Orphanet] 142 / 7739
15
(HPO:0000588) Optic nerve coloboma Frequent [Orphanet] 27 / 7739
16
(HPO:0000572) Visual loss Occasional [Orphanet] 272 / 7739
17
(HPO:0000518) Cataract Occasional [Orphanet] 454 / 7739
18
(HPO:0000639) Nystagmus Occasional [Orphanet] 555 / 7739
19
(HPO:0000612) Iris coloboma Frequent [Orphanet] 116 / 7739
20
(HPO:0000479) Abnormality of the retina Frequent [Orphanet] 74 / 7739
21
(HPO:0000482) Microcornea Frequent [Orphanet] 102 / 7739
22
(HPO:0000384) Preauricular skin tag Occasional [Orphanet] 62 / 7739
23
(HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
24
(HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
25
(HPO:0000356) Abnormality of the outer ear Frequent [Orphanet] 85 / 7739
26
(HPO:0002167) Neurological speech impairment Occasional [Orphanet] 308 / 7739
27
(HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
28
(HPO:0100716) Self-injurious behavior Occasional [Orphanet] 43 / 7739
29
(HPO:0009611) Bifid distal phalanx of the thumb Frequent [Orphanet] 15 / 7739
30
(HPO:0100818) Long thorax Occasional [Orphanet] 10 / 7739
31
(HPO:0006101) Finger syndactyly Frequent [Orphanet] 198 / 7739
32
(HPO:0000774) Narrow chest Occasional [Orphanet] 167 / 7739
33
(HPO:0002808) Kyphosis Occasional [Orphanet] 289 / 7739
34
(HPO:0100490) Camptodactyly of finger Frequent [Orphanet] 212 / 7739
35
(HPO:0006660) Aplastic clavicles Occasional [Orphanet] 70 / 7739
36
(HPO:0003307) Hyperlordosis Occasional [Orphanet] 122 / 7739
37
(HPO:0004209) Clinodactyly of the 5th finger Frequent [Orphanet] 288 / 7739
38
(HPO:0002650) Scoliosis Occasional [Orphanet] 705 / 7739
39
(HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
40
(HPO:0030680) Abnormality of cardiovascular system morphology Occasional [Orphanet] 355 / 7739
41
(HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Occasional [Orphanet] 180 / 7739
42
(HPO:0012758) Neurodevelopmental delay Frequent [Orphanet] 949 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: