thumb Broad thumbs Wide/broad thumb [ more ] 0011304 Hypotelorism Abnormally close eyes Closely spaced eyes [ more ] 0000601 Overbite 0011094 Sloping forehead Inclined forehead Receding forehead [ more ] 0000340 Small forehead Decreased size of forehead [rarediseases.info.nih.gov]

Loss: Home Testing: o Home Weight Testing o Home Body Fat Testing (BMI) o Home Body Fat Monitoring o Home Fitness Testing * Diabetes: Related Home Testing: o Home Diabetes Tests o Home Blood Glucose Tests o Home Urine Glucose Tests o Home Urine Ketone [checkorphan.org]

pigmented clumping, bone spicules, or both as in retinitis pigmentosa.4 Thus far, 12 cases of autosomal recessive2·5"7 and 21 cases of autosomal dominant*·8"11 microcephaly with chorío retí ñopa thy have been reported. [healio.com]

Figure 3 Images of the eye fundus examination showing peripapillary retinal atrophy; abnormality of the peripheral retinal pigment epithelium, typical of chorioretinopathy, with poorly defined borders and little perilesional pigmentation; and a minor [scielo.br]

pigment epithelium (one individual), corticonuclear cataract, pseudocoloboma of the left optic nerve and persistent hyaloid artery (one individual); some individuals had more than one ocular feature ( Table 2 ). [nature.com]

Autosomal dominant Digital anomalies Microcephaly Short palpebral fissures Syndactyly Thumb hypoplasia Cite this Apa BIBTEX Harvard Standard RIS Vancouver Innis, J. W., Asher, J. H., Poznanski, A. K., & Sheldon, S. (1997). [scholars.northwestern.edu]

Abstract: We describe a family segregating an autosomal dominant mutation producing a syndrome comprising microcephaly with normal intelligence and short palpebral fissures together with variable signs including thumb hypoplasia, shortness of the middle [deepblue.lib.umich.edu]

[…] body height Small stature [ more ] 0004322 30%-79% of people have these symptoms Alternating esotropia Alternating cross eyes 0001137 5%-29% of people have these symptoms Horizontal nystagmus 0000666 Protruding ear Prominent ear Prominent ears [ more [rarediseases.info.nih.gov]

Their facial appearance is characterized by deep-set eyes, short philtrums, and a "beaked" nose. The mother and uncle live in an adult foster care facility because of mental retardation. The 3-year-old girl has a developmental quotient of 55. [ncbi.nlm.nih.gov]

Affected individuals may have distinctive facial features, which can include a beaked nose, an abnormally long groove that runs from the base of the nose to the upper lip (philtrum), a high forehead, and large ears. [rarediseases.org]

Their facial appearance is characterized by deep-set eyes, short philtrums, and a "beaked" nose. The mother and uncle live in an adult foster care facility because of mental retardation. The 3-year-old girl has a developmental quotient of 55. [ncbi.nlm.nih.gov]

Affected individuals may have distinctive facial features, which can include a beaked nose, an abnormally long groove that runs from the base of the nose to the upper lip (philtrum), a high forehead, and large ears. [rarediseases.org]

DPP6 appears to play a major role in the regulation of proliferation and migration of neurons in neurogenesis, most likely by participating in neuronal electrical excitability, synaptic integration, and plasticity. [ncbi.nlm.nih.gov]