The patient had the striking pattern of skin and hair involvement that characterize the condition, global developmental delay, growth retardation, microcephaly, and bilateral hearing loss. [ncbi.nlm.nih.gov]

Related symptoms: Autosomal dominant inheritance Intellectual disability Global developmental delay Short stature Microcephaly SOURCES: MONDO UMLS OMIM More info about DYSTONIA 28, CHILDHOOD-ONSET; DYT28 Low match ALBINISM, OCULAR, TYPE I; OA1 Ocular [mendelian.co]

Deletion of 14-3-3{varepsilon} and CRK: A Clinical Syndrome With Macrocephaly, Developmental Delay, and Generalized Epilepsy. J Child Neurol. 2010 Sep 10. Burrow TA, Bailey LA, Kinnett DG, Hopkin RJ. [cincinnatichildrens.org]

[…] of 22 80%-99% of people have these symptoms Hypopigmentation of hair Loss of hair color 0005599 Hypopigmented skin patches Patchy loss of skin color 0001053 Sensorineural hearing impairment 0000407 30%-79% of people have these symptoms Intellectual disability [rarediseases.info.nih.gov]

About half of patients show delayed motor and/or cognitive development with mild intellectual disability (summary by Zech et al., 2016 and Meyer et al., 2017 ). [mendelian.co]

Fragile X Syndrome August 28, 2018 by Peter Ciszewski Fragile X Syndrome is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. [checkrare.com]

Symptoms of toxic skin include: Skin rashes caused by vitiligo and psoriasis ,Red, itchy rash, inflammation, temporary disability. [crutchfielddermatology.com]

In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. [rarediseases.info.nih.gov]

Physicians, Nurse Practitioners and PAs, already on Doximity. [doximity.com]

When other medical students, dermatology residents and physicians learn about psoriasis, they are often learning it from Dr. Crutchfield. Dr. Crutchfield also treats many physicians and nurses with psoriasis. [crutchfielddermatology.com]

[…] hearing impairment 0000407 30%-79% of people have these symptoms Intellectual disability, mild Mental retardation, borderline-mild Mild and nonprogressive mental retardation Mild mental retardation [ more ] 0001256 Irregular hyperpigmentation 0007400 Short [rarediseases.info.nih.gov]

[…] the 5th finger Permanent curving of the pinkie finger 0004209 Microcephaly Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ] 0000252 Muscular hypotonia Low or weak [rarediseases.info.nih.gov]

[…] plum tree from here. en For the satirical rogue says here that old men have gray beards...... that their faces are wrinkled...... their eyes purging thick amber and plum - tree gum...... and that they have a plentiful lack of wit, together with most weak [es.glosbe.com]

Nystagmus, photophobia, retinal depigmentation and intellectual deficit were also reported in one pair of siblings. [malacards.org]

Nystagmus, photophobia, retinal depigmentation and intellectual deficit were also reported in one pair of siblings. An autoimmune mechanism or failure of melanocyte migration may be responsible for the disease. [rarediseases.info.nih.gov]

[…] melanocytes Motor delay Abnormal macular morphology Albinism Hypopigmentation of the fundus Ocular albinism Hypoplasia of the fovea Abnormality of epiphysis morphology Amblyopia Hypopigmentation of the skin Falls Pica Visual impairment Ichthyosis Blindness Photophobia [mendelian.co]

pigmentation * Deafness Causes - Ermine phenotype * Brown skin spots * Deafness * Nystagmus * White hair Prevention - Ermine phenotype Not supplied. [checkorphan.org]

pigmentation Joint dislocation Aplasia/Hypoplasia of the corpus callosum Multiple joint dislocation Elbow dislocation Limited elbow extension Dislocated radial head Patellar dislocation Irregular epiphyses Small epiphyses Multiple epiphyseal dysplasia [mendelian.co]

[…] body height Small stature [ more ] 0004322 5%-29% of people have these symptoms Abnormality of the nose Nasal abnormality 0000366 Astigmatism Abnormal curving of the cornea or lens of the eye 0000483 Clinodactyly of the 5th finger Permanent curving of [rarediseases.info.nih.gov]

head circumference [ more ] 0000252 Muscular hypotonia Low or weak muscle tone 0001252 Nystagmus Involuntary, rapid, rhythmic eye movements 0000639 Ocular albinism Absent pigmentation in the eye 0001107 Photophobia Extreme sensitivity of the eyes to [rarediseases.info.nih.gov]

Affiliated tissues include skin, and related phenotypes are sensorineural hearing impairment and hypopigmented skin patches [malacards.org]

Showing of 22 80%-99% of people have these symptoms Hypopigmentation of hair Loss of hair color 0005599 Hypopigmented skin patches Patchy loss of skin color 0001053 Sensorineural hearing impairment 0000407 30%-79% of people have these symptoms Intellectual [rarediseases.info.nih.gov]

impairment Retinopathy Hearing impairment Coarctation of aorta Thin vermilion border Autistic behavior Patent ductus arteriosus Abnormality of the dentition Atrial septal defect Generalized hypotonia Specific learning disability Behavioral abnormality [mendelian.co]

Affiliated tissues include skin, and related phenotypes are sensorineural hearing impairment and hypopigmented skin patches [malacards.org]

Showing of 22 80%-99% of people have these symptoms Hypopigmentation of hair Loss of hair color 0005599 Hypopigmented skin patches Patchy loss of skin color 0001053 Sensorineural hearing impairment 0000407 30%-79% of people have these symptoms Intellectual [rarediseases.info.nih.gov]

impairment Retinopathy Hearing impairment Coarctation of aorta Thin vermilion border Autistic behavior Patent ductus arteriosus Abnormality of the dentition Atrial septal defect Generalized hypotonia Specific learning disability Behavioral abnormality [mendelian.co]

Affiliated tissues include skin, and related phenotypes are sensorineural hearing impairment and hypopigmented skin patches [malacards.org]

Showing of 22 80%-99% of people have these symptoms Hypopigmentation of hair Loss of hair color 0005599 Hypopigmented skin patches Patchy loss of skin color 0001053 Sensorineural hearing impairment 0000407 30%-79% of people have these symptoms Intellectual [rarediseases.info.nih.gov]

This will also result in skin patches to shrink, grow or remain the same. The white patches spread on various body parts such as the limbs, torso, face and groin. Skin discoloration should not be a cause for alarm. [crutchfielddermatology.com]

Affiliated tissues include skin, and related phenotypes are sensorineural hearing impairment and hypopigmented skin patches [malacards.org]

Showing of 22 80%-99% of people have these symptoms Hypopigmentation of hair Loss of hair color 0005599 Hypopigmented skin patches Patchy loss of skin color 0001053 Sensorineural hearing impairment 0000407 30%-79% of people have these symptoms Intellectual [rarediseases.info.nih.gov]

Psoriasis, eczema shall interfere with melanin synthesis in a few patients who reports with white discolorations. Long-time in take of certain material medicines is found to produce this pigment disorder. [worldwidehealth.com]

[…] more ] 0001770 Percent of people who have these symptoms is not available through HPO Albinism 0001022 Autosomal recessive inheritance 0000007 Spotty hyperpigmentation Spotty increased pigmentation 0005585 Vitiligo Blotchy loss of skin color 0001045 White [rarediseases.info.nih.gov]

Griscelli syndrome type 2 0 *Immunologic Deficiency Syndromes *Piebaldism. Griscelli syndrome type 1 0 *Hearing Loss, Sensorineural *Pigmentation Disorders *Piebaldism. Telfer Sugar Jaeger syndrome 0 *Movement Disorders *Piebaldism. [reference.md]

Ultrastructure of melanosomes was abnormal suggesting a defect in melanin synthesis. Ermine phenotype has a distinct clinical presentation compared to other syndromes associated with abnormal pigment and deafness. [ncbi.nlm.nih.gov]

‘Evidence suggests that in insular Newfoundland Arctic hares may produce two, perhaps three litters in some years.’ ‘The most important adaptations of the Arctic hare are its keen eyesight, acute hearing, and speed.’ [en.oxforddictionaries.com]

G.s cells could also arise, as suggested to us by Dr. SANGER, from an unusual alignment in the Rh gene complex without Cw being intrinsically abnormal. [docslide.fr]

It has been suggested that under the selective pressure of herbivory, the production of novel types of coumarins in plants was stimulated. [myslide.es]

Our data suggest that new pheromone compounds can persist in a sender’s population, without being selected against by the receiver and without the receiver having a pre-existing preference for the new pheromone phenotype, by initially remaining unperceived [nature.com]

[…] eyes * Lack of retinal pigmentation * Deafness Causes - Ermine phenotype * Brown skin spots * Deafness * Nystagmus * White hair Prevention - Ermine phenotype Not supplied. [checkorphan.org]

Nystagmus, photophobia, retinal depigmentation and intellectual deficit were also reported in one pair of siblings. [malacards.org]

Nystagmus, photophobia, retinal depigmentation and intellectual deficit were also reported in one pair of siblings. An autoimmune mechanism or failure of melanocyte migration may be responsible for the disease. [rarediseases.info.nih.gov]

EPIPHYSEAL DYSPLASIA, MICROCEPHALY, AND NYSTAGMUS Is also known as lowry-wood syndrome;lws;epiphyseal dysplasia-microcephaly-nystagmus syndrome Related symptoms: Autosomal recessive inheritance Intellectual disability Short stature Microcephaly Nystagmus [mendelian.co]

MalaCards based summary : Ermine Phenotype, also known as pigmentary disorder with hearing loss, is related to ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus. [malacards.org]

Spastic paraparesis Macular dystrophy Erythroderma Paraparesis Macular degeneration Leukoencephalopathy Hip dysplasia Brachydactyly Autism High palate Intrauterine growth retardation Ventricular septal defect Hypospadias Retrognathia Micropenis Gait ataxia [mendelian.co]

speech and language development Cognitive impairment Degenerative vitreoretinopathy Rhegmatogenous retinal detachment Toe walking Vitreoretinopathy Flat capital femoral epiphysis Severe sensorineural hearing impairment Retinopathy Hearing impairment [mendelian.co]