Phenotypes for disease #01059

46 entries on 1 page. Showing entries 1 - 46.
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Individual ID     
0000092117 congenital ichthyosis, total alopecia, inguinal hernia, short stature, photophobia, thickened dystrophic nails; typical IFAP triad, psychomotor development normal; corneal scars - - Unknown 28y - 00y00m01d - - Emmelien Aten 00116638
0000092119 death 1y; IFAP triad, pronounced photophobia; IFAPS - - Familial - - - - - Emmelien Aten 00116666
0000092120 IFAP triad, eczematous changes shoulders/limbs, frequent skin infections, nail dystrophy, ptosis left upper eyelid; IFAPS - - Familial - - - - - Emmelien Aten 00116667
0000092121 born with hair, subsequently developed alopecia, dystrophic fingernails; atypical; IFAPS - - Familial - - - - - Emmelien Aten 00116671
0000092122 birth-full head dark hair; 4m-hair shed, no new hair appeared (scalp/eyebrows); 18m-total alopecia, complete absence scalp hair, eyebrows, diminutive eyelashes, dry skin widespread follicular papules, normal teeth, no dysmorphic features, not photophobic, sweat test normal; 10y-prominent generalized follicular ichthyosis, dystrophy fingernails, mild photophobia, astigmatism, recurrent staphylococcal folliculitis, psoriasiform plaques elbows, knees, Achilles tendons; IFAPS - - Familial - - - - - Emmelien Aten 00116672
0000092123 IFAP triad, dystrophic nails, perleche; IFAPS - - Familial - - - - - Emmelien Aten 00116676
0000092126 IFAPS - - Familial - - - - - Emmelien Aten 00116684
0000092127 IFAPS - - Familial - - - - - Emmelien Aten 00116685
0000092128 IFAP triad with pronounced photophobia, dermatitis arms/legs, corneal pannus; IFAPS - - Isolated (sporadic) - - - - - Emmelien Aten 00116686
0000092129 IFAP triad, hyperkeratosis around joints, perlèche, perianal erythema, plantar keratoderma, subungual hyperkeratoses, periungual erythema and hyperkeratosis, inguinal hernia, cryptorchidism; IFAPS - - Isolated (sporadic) - - - - - Emmelien Aten 00116687
0000092130 IFAP triad; see paper ... - - Isolated (sporadic) - - - - - Emmelien Aten 00116689
0000092131 IFAP triad; IFAPS - - Isolated (sporadic) - - - - - Emmelien Aten 00116690
0000092132 7y-IFAP, corneal scarring, abnormal nails, development delay, growth retardation, head tilt, corneall involvement, brain abnormalities, seizures; IFAPS - - Unknown - - - - - Emmelien Aten 00116699
0000092133 4y-IFAP, corneal scarring, abnormal nails, development delay, growth retardation, head tilt, corneall involvement, brain abnormalities, seizures; IFAPS - - Unknown - - - - - Emmelien Aten 00116700
0000092134 3y-IFAP, corneal scarring, developmental delay, growth retardation; IFAPS - - Unknown - - - - - Emmelien Aten 00116701
0000092135 15y-IFAP, developmental delay, head tilt; IFAPS - - Unknown - - - - - Emmelien Aten 00116702
0000092136 scalp alopecia; IFAPS - - Familial - - - - - Emmelien Aten 00116691
0000092140 born with full head of hair. dry and rough skin. hypotrochosis at age 9. mild photophobia. mild myopia; IFAP syndrome; no intellectual disability - - Familial 09y - - - - Emmelien Aten 00116692
0000092141 born with full head of hair, later patchy alopecia. photophobia. left inguinal hernia. widespread follicular papules; IFAP syndrome; no intellectual disability - - Familial 06y - - - - Emmelien Aten 00116693
0000092142 congenital alopecia. photophobia. seizures. bilateral cryptorchidism. generalized skin dryness. thickened nails. delayed bone age. growth retardation. psychomotor retardation; IFAP syndrome; intellectual disability - - Unknown 05y - - - - Emmelien Aten 00116697
0000092158 congenital alopecia, photophobia, absent eyebrows and eyelashes (total atrichia). scaly plaques on scalp, extensor part extremities. spiny keratotic follicular papules abdomen and axillae. impaired vision. delayed bone age. MR; IFAP syndrome; intellectual disability; Ocular_changes - - Familial 11y - 01d - - Emmelien Aten 00116705
0000092159 Dry skin at birth. Follicular keratosis (inflamed) and hair-loss from 3 mo. of age. Alopecia totalis. Photophobia. Psychomotor development normal. The boy´s maternal uncle reportedly has a similar phenotype but did not wish to be investigated; IFAP syndrome - - Familial - - - - - Karl-Heinz Grzeschik 00116639
0000092160 IFAP triad and follicular hyperkeratosis present from infancy; no hair or eyelashes; corneal ulceration; poor teeth (? caries), poor nails (? chronic fungal infection); mild global developmental delay, generalised seizures, strabismus, macrocephaly (>90th centile) and frontal bossing; IFAP syndrome - - Familial, X-linked dominant, male sparing - - - - - Karl-Heinz Grzeschik 00116640
0000092161 IFAP triad and follicular hyperkeratosis; punctate epithelial erosions of the cornea with corneal vascularisation; poor teeth (? caries), poor nails (? chronic fungal infection); mild global developmental delay; inguinal hernia; IFAP syndrome - - Familial, X-linked dominant, male sparing - - - - - Karl-Heinz Grzeschik 00116641
0000092162 Single patch of alopecia; normal skin apart from eczema during childhood); normal eyes (apart from surgically-corrected strabismus); IFAP syndrome - - Familial, X-linked dominant, male sparing - - - - - Karl-Heinz Grzeschik 00116642
0000092163 IFAP triad; IFAP syndrome - - Familial, X-linked dominant, male sparing - - - - - Karl-Heinz Grzeschik 00116643
0000092164 Eczema and psoriasis; severe ichthyosis with palmo-plantar hyperkeratosis; ungual dysplasia; IFAP syndrome - - Familial, X-linked dominant, male sparing - - - - - Karl-Heinz Grzeschik 00116644
0000092165 Eczema and psoriasis; severe ichthyosis with palmo-plantar hyperkeratosis; ungual dysplasia; IFAP syndrome - - Familial, X-linked dominant, male sparing - - - - - Karl-Heinz Grzeschik 00116645
0000092166 Keratosis pilaris, mainly affecting the lower limbs; IFAP syndrome - - Familial, X-linked dominant, male sparing - - - - - Karl-Heinz Grzeschik 00116646
0000092167 Complete atrichia, pronounced mental retardation, short stature, mild photophobia, scarring of cornea at age 3 y, ichthyotic skin, hyperkeratotic nails, mediastinal germ cell tumor at age 20 y; IFAP syndrome - - Familial - - - - - Karl-Heinz Grzeschik 00116647
0000092168 none reported; IFAP syndrome - - Familial - - - - - Karl-Heinz Grzeschik 00116648
0000092169 Hispanic male born at 38 weeks, pregnancy complicated by polyhydramnios. At birth diffusely red and dry skin, absent scalp hair, eyebrows, eyelashes; diffuse, spiny, keratotic follicular papules most prominent over scalp and eyebrows. At 4 weeks complete loss of scalp hair, eyebrows and eyelashes; very tiny keratotic spicules all over, most noticeable on forehead; nails normal; no keratoderma; hearing screen normal; ophthalmology exam reported as normal; no mention of photophobia. At 1 year 9 month: photophobia present; immunological abnormalities, mild B cell lymphopenia, poor antibody response. No family history of similar disorders; IFAP syndrome - - Isolated (sporadic) - - - - - Karl-Heinz Grzeschik 00116649
0000092170 IFAP triad; mental retardation, vertebral anomalies; IFAP syndrome - - Familial - - - - - Karl-Heinz Grzeschik 00116650
0000092171 none reported; IFAP syndrome - - Familial - - - - - Karl-Heinz Grzeschik 00116651
0000092173 Ichthyosis follicularis; noncicatricial universal alopecia; photophobia, madarosis; corneal vascularisation; hyperkeratotic psoriasis-like lesions; nail dystrophy; inguineal herniae; cryptorchidism, short statue; seizures; psychomotor developmental delay; IFAP syndrome - - Familial - - - - - Karl-Heinz Grzeschik 00116652
0000092174 Ichthyosis follicularis, noncicatricial universal alopecia, photophobia, madarosis, corneal vascularisation, hyperkeratotic psoriasis-like lesions, nail dystrophy; inguineal herniae; cryptorchidism; short statue; seizures; psychomotor developmental delay; bilateral absence of 4th fingers and camptodactyly; IFAP syndrome - - Familial - - - - - Karl-Heinz Grzeschik 00116653
0000092175 Congenital ichthyosis with dry skin and mild scaling, follicular keratosis of capillitium with mild erythema, primary universal alopecia, no eyebrows, very small eyelashes, pronounced follicular keratoses on knees and over the Achilles tendon, patches of â??psoriasiform skin lesionsâ? on the lower legs (at age of 3 y), generalized hypohidrosis, history of perioral eczema. Histology: Ichthyosis follicularis, atrichia, hyperkeratosis of the sweet gland ducts. Neurology: delayed speech development, EEG normal. ENT: Moderate hearing deficit (> 40 db). Others: Mild syndactyly of the toe, inguinal hernia at the age of 4y; IFAP syndrome - - Familial, X-linked dominant, male sparing - - - - - Karl-Heinz Grzeschik 00116654
0000092176 Striate hyperkeratosis along Blaschko lines of both legs and soles with striate hypohidrosis (sweat testing). Histology from affected areas: ichthyosis follicularis; IFAP syndrome - - Familial, X-linked dominant, male sparing - - - - - Karl-Heinz Grzeschik 00116655
0000092177 Delayed speech development, skin phenotype:none reported; IFAP syndrome - - Familial, X-linked dominant, male sparing - - - - - Karl-Heinz Grzeschik 00116656
0000092178 At 2 years of age: non inflammatory diffuse follicular hyperkeratosis, noncicatricial generalised congenital alopecia, and photophobia; ophthalmologic examination normal; onychodystrophia of third toe of right foot (mycologic examination negative); right cryptorchidism; IFAP syndrome - - Unknown - - - - - Karl-Heinz Grzeschik 00116657
0000092179 Dry skin and keratosis follicularis since birth. Hair-loss at 12 mo. of age resulting in almost complete alopecia. Photophobia and corneal ulcers. Psychomotor development normal; IFAP syndrome - - Familial - - - - - Karl-Heinz Grzeschik 00116658
0000092180 Dry skin and keratosis follicularis since birth. Hair-loss at 12 mo. of age resulting in almost complete alopecia. Photophobia and corneal ulcers. Psychomotor development normal; IFAP syndrome - - Familial - - - - - Karl-Heinz Grzeschik 00116659
0000092181 IFAP; mild psychomotor delay; inguinal hernia; IFAP syndrome - - Familial - - - - - Karl-Heinz Grzeschik 00116660
0000092182 Normal phenotype, without IFAP related problems; IFAP syndrome - - Familial - - - - - Karl-Heinz Grzeschik 00116661
0000092184 IFAP triad; reduced sweating, normal nails and teeth, marked ichthyosis over pressure areas, extensor surfaces of limbs, buttock cleft; poor vision, myopia; severe photophobia, corneal scars; hoarse voice with vocal nodules; psychomotor development normal; height and weight <0.4th centile, OFC 9-25th centile; IFAP syndrome - - Isolated (sporadic) - - - - - Karl-Heinz Grzeschik 00116663
0000092185 typical IFAP, see paper ... - - Unknown 26y - - - - Johan den Dunnen 00116706
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