Some other common XLR diseases are hemophilia A, hemophilia B, fragile X syndrome, non-specific X-chromosomal mental retardation (MRXS3) and X-linked Bruton agammaglobulinemia (BTK). [dorak.info]

Due To Glucose Phosphate Isomerase Deficiency 1 Hemophagocytic Lymphohistiocytosis, Familial, 2 2 Hemophagocytic Lymphohistiocytosis, Familial, 3 2 Hemophagocytic Lymphohistiocytosis, Familial, 4 2 Hemophagocytic lymphohistiocytosis, Familial, 5 2 Hemophilia [preventiongenetics.com]

Weill–Marchesani syndrome short stature; an unusually short, broad head (brachycephaly) facial abnormalities; hand defects, including unusually short fingers (brachydactyly); distinctive eye abnormalities. [slideshare.net]

impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000407 9 glossoptosis 60 33 frequent (33%) Frequent (79-30%) HP:0000162 10 brachydactyly 60 33 frequent (33%) Frequent (79-30%) HP:0001156 11 midface retrusion 60 33 frequent (33%) Frequent (79-30% [malacards.org]

[…] pronounced convex arched eyebrows AD (50% de novo) FOXL2 #110100 BLUE-CONE MONOCHROMACY Blue cone type colorblindness, photophobia, nystagmus, myopia, macular pigment epithelial changes XLR OPN1LW, OPN1MW #303700 BRANCHIOOTORENAL SYNDROME Eyes absent, lacrimal [eyewiki.aao.org]

Thoracic 4 4 Aortic Aneurysm, Familial Thoracic 6 4 Aortic Aneurysm, Familial Thoracic 7 4 Aortic Aneurysm, Familial Thoracic 8 3 Aortic Aneurysm, Familial Thoracic 9 2 Aortic Valve Disorder 1 Apert Syndrome 6 Aphakia, Congenital Primary 3 Aplasia Of Lacrimal [preventiongenetics.com]

tearing AR TAT #276600 USHER SYNDROME retinitis pigmentosa, cataracts AR 11 genes, majority of cases due to MYO7A, USH2A Multiple DISORDER EYE FINDING MODE OF INHERITANCE KNOWN GENES OR CHROMOSOMAL ABNORMALITY INVOLVED MIM SYMBOL & NUMBER REFERENCE VACTERL [eyewiki.aao.org]

DEUTAN Green colorblindness X-linked OPN1MW #303800 COLORBLINDNESS, PROTAN Red colorblindness X-linked OPN1LW #303900 COLORBLINDNESS, TRITANOPIC Abnormal blue and yellow vision AD OPN1SW #190900 CONE-ROD DYSTROPHY Dyschromatopsia, photophobia, nystagmus [eyewiki.aao.org]

eyes Migraine Normal Mongolian Fold No fold in eyes Nearsightedness Normal vision Rh factor ( ) No factor (Rh -) Second toe longest First or big toe longest Short stature Tall stature Six fingers Five fingers normal Webbed fingers Normal fingers Tone [sciencebrainwaves.com]

[…] frequent (99-80%) HP:0002781 7 frontal bossing 60 33 frequent (33%) Frequent (79-30%) HP:0002007 8 sensorineural hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000407 9 glossoptosis 60 33 frequent (33%) Frequent (79-30%) HP:0000162 10 brachydactyly [malacards.org]

Type A1 2 Brachydactyly Type A2 3 Brachydactyly Type C 3 Brachydactyly, type A1, C 1 Brachydactyly, Type B1 2 Brachydactyly, Type B2 3 Brachydactyly, Type D 1 Brachydactyly, Type E1 1 Brachydactyly, Type E2 1 Brachyolmia 4 with Mild Epiphyseal and Metaphyseal [preventiongenetics.com]

Weill–Marchesani syndrome short stature; an unusually short, broad head (brachycephaly) facial abnormalities; hand defects, including unusually short fingers (brachydactyly); distinctive eye abnormalities. [slideshare.net]

Only a few non-glycine missense mutations have been reported and among these, the arginine to cysteine substitutions predominate and these mutations cause some unusual disorders which may be described as Stickler-like but have short stature and brachydactyly [rarediseases.org]

[…] nystagmus, photophobia, strabismus, macular hypoplasia AR CHS1 #214500 CHERUBISM Proptosis, globe displacement, lower eyelid retraction, optic neuropathy, striae of macula, marcus-gunn pupil AD SH3BP2 #118400 CHONDRODYSPLASIA WITH PLATYSPONDYLY, DISTINCTIVE BRACHYDACTYLY [eyewiki.aao.org]

He is a world renowned retinal specialist who has published more than 300 scientific papers and 11 textbooks, with particular interest in diseases of the macula, such as diabetic retinopathy and age–related macular degeneration. [books.google.com]

The macula of the retina (the area with the highest visual resolution) can develop tiny cysts or develop a hole as well. Sometimes hemorrhages occur in the macula which leads to an acute loss of clear vision. [disorders.eyes.arizona.edu]

The macula has a high density of cones, ganglion cells, and pigment within bipolar and ganglion cells. The central 1.5 mm area of the macula is the fovea. [patient.info]

Myopic macula chorioretinal degeneration with lacquer crack across the fovea. 61. Lacquer cracks near the macula 62. [slideshare.net]

Insight into high myopia and the macula Vitreo-Retina and Uveitis Service, Dr. [ijo.in]

bossing 60 33 frequent (33%) Frequent (79-30%) HP:0002007 8 sensorineural hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000407 9 glossoptosis 60 33 frequent (33%) Frequent (79-30%) HP:0000162 10 brachydactyly 60 33 frequent (33%) Frequent [malacards.org]

Figure 11: Father with Ehlers-Danlos syndrome: macrocephaly, hypertelorism, long face, prominent frontal bossing, thick eyebrows, prominent nasal root and tip, micrognathia, sloping shoulders. [omicsonline.org]

Its symptoms are headaches caused by eye strain and blurry vision when looking at distant objects. Genetic and environmental factors both influence the development of nearsightedness. [wespeakscience.com]

Sometimes people with undiagnosed myopia have headaches and eyestrain from struggling to clearly see things in the distance. [nei.nih.gov]

Headaches may accompany eyestrain. Diagnosis The diagnosis of myopia is typically made during the first several years of elementary school when a teacher notices a child having difficulty seeing the chalkboard, reading, or concentrating. [encyclopedia.com]