MICROPHTHALMIA, SYNDROMIC 7

General Information (adopted from Orphanet):

Synonyms, Signs: MIDAS SYNDROME
MICROPHTHALMIA WITH LINEAR SKIN DEFECTS
MICROPHTHALMIA, DERMAL APLASIA, AND SCLEROCORNEA
MCOPS7
MLS
Number of Symptoms 36
OrphanetNr:
OMIM Id: 309801
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: X-linked dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000013) Hypoplasia of the uterus 21 / 7739
2
(HPO:0000054) Micropenis 257 / 7739
3
(HPO:0008665) Clitoral hypertrophy 10 / 7739
4
(HPO:0000041) Chordee 11 / 7739
5
(HPO:0000047) Hypospadias 250 / 7739
6
(HPO:0010459) True hermaphroditism 5 / 7739
7
(HPO:0000568) Microphthalmia 183 / 7739
8
(HPO:0000252) Microcephaly 832 / 7739
9
(HPO:0000612) Iris coloboma 116 / 7739
10
(HPO:0000518) Cataract 454 / 7739
11
(HPO:0000580) Pigmentary retinopathy 49 / 7739
12
(HPO:0000647) Sclerocornea 25 / 7739
13
(HPO:0000365) Hearing impairment 539 / 7739
14
(HPO:0006887) Intellectual disability, progressive 24% [HPO:skoehler] 68 / 7739
15
(HPO:0001250) Seizures 1245 / 7739
16
(HPO:0001545) Anteriorly placed anus 55 / 7739
17
(HPO:0000776) Congenital diaphragmatic hernia 36 / 7739
18
(HPO:0002023) Anal atresia 135 / 7739
19
(HPO:0004322) Short stature 1232 / 7739
20
(HPO:0007398) Asymmetric, linear skin defects 1 / 7739
21
(HPO:0005152) Oncocytic cardiomyopathy 2 / 7739
22
(HPO:0001631) Atria septal defect 274 / 7739
23
(HPO:0011675) Arrhythmia 226 / 7739
24
(HPO:0001629) Ventricular septal defect 316 / 7739
25
(HPO:0002623) Overriding aorta 8 / 7739
26
(HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
27
(OMIM) Infantile seizures 2 / 7739
28
(HPO:0001274) Agenesis of corpus callosum 142 / 7739
29
(OMIM) Distal Xp22.3 segmental monosomy 1 / 7739
30
(HPO:0001331) Absent septum pellucidum 16 / 7739
31
(HPO:0012861) Ovotestis 2 / 7739
32
(HPO:0030048) Colpocephaly 4 / 7739
33
(HPO:0001423) X-linked dominant inheritance 69 / 7739
34
(OMIM) Colpocephaly 3 / 7739
35
(HPO:0000238) Hydrocephalus 278 / 7739
36
(OMIM) Mental retardation, mild to severe 14 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) The microphthalmia with linear skin defects syndrome (MLS) is an X-linked dominant disorder characterized by unilateral or bilateral microphthalmia and linear skin defects--which are limited to the face and neck, consisting of areas of aplastic skin that heal ...
Clinical Description OMIM In 2 females with de novo X;Y translocations, Al Gazali et al. (1990) described manifestations including irregular linear areas of erythematous skin hypoplasia involving the head and neck, along with eye findings that included microphthalmia, corneal opacities, and ...
Molecular genetics OMIM Morleo et al. (2005) reported the clinical, cytogenetic, and molecular characterization of 11 patients, 7 of whom had not been described previously. Chromosomal abnormalities of the short arm of the X chromosome were present in 7 of the ...