All individuals with variants in gene MBTPS2

110 entries on 2 pages. Showing entries 1 - 100.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 6 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 8 1 Yu Sun
00105902 27380894-FamIIAPat1/II PubMed: Lindert 2016, Journal: Lindert 2016 3-generation family, 2 affected males, unaffected heterozygous carrier females, Pat1/II M no Germany German - - - - OI osteogenesis Imperfecta, bowing of humeri, radii and tibiae,, fractures of femora, ribs and clavicles, kyphoscoliosis, anterior vertebral wedging, short stature 1 2 Cecilia Giunta
00105905 27380894-FamIIAPat2/II PubMed: Lindert 2016, Journal: Lindert 2016 Pat2/II M no Germany German 68y - - - OI osteogenesis imperfecta, multiple fractures, osteopenia, bowing of humeri, radii and tibiae, kyphoscoliosis, anterior vertebral wedging, short stature, fractures declined post puberty, pectus excavatum 1 1 Cecilia Giunta
00105906 27380894-Fam1PatV7 PubMed: Lindert 2016, Journal: Lindert 2016 5-generation family, 12 affecteds, unaffected heterozygous carrier females, PatV7 M no Thailand AsianO - - - - OI osteogenesis imperfecta, fractures beginning during gestation, shortstature, white sclerae, variable scoliosis and pectal deformity,, striking tibial anterior angulation and generalized osteopenia 1 12 Cecilia Giunta
00116638 21426410-Pat2 PubMed: Oeffner 2011 - M - - white - - - - IFAP1 congenital ichthyosis, total alopecia, inguinal hernia, short stature, photophobia, thickened dystrophic nails; typical IFAP triad, psychomotor development normal; corneal scars 1 1 Emmelien Aten
00116639 23316014-Fam10PatII1 PubMed: Bornholdt 2013 - M ? Sweden - - - - - IFAP1 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 1 1 Karl-Heinz Grzeschik
00116640 23316014-Fam12PatII1 PubMed: Bornholdt 2013 2-generation family, 2 affected males M ? United Kingdom (Great Britain) - - - - - IFAP1 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 1 3 Karl-Heinz Grzeschik
00116641 23316014-Fam12PatII2 PubMed: Bornholdt 2013 affected brother of Fam12PatII1, genotype not analyzed M ? United Kingdom (Great Britain) - - - - - IFAP1 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 1 1 Karl-Heinz Grzeschik
00116642 23316014-Fam12PatI1 PubMed: Bornholdt 2013 mother of Fam12PatII1 and Fam12PatII2, genotype not analyzed F ? United Kingdom (Great Britain) - - - - - IFAP1 Single patch of alopecia; normal skin apart from eczema during childhood); normal eyes (apart from surgically-corrected strabismus); IFAP syndrome 1 1 Karl-Heinz Grzeschik
00116643 23316014-Fam7PatII1 PubMed: Bornholdt 2013 - M no France - - - - - IFAP1 IFAP triad; IFAP syndrome 1 4 Karl-Heinz Grzeschik
00116644 23316014-Fam7PatI1 PubMed: Bornholdt 2013 - F ? France - - - - - IFAP1 Eczema and psoriasis; severe ichthyosis with palmo-plantar hyperkeratosis; ungual dysplasia; IFAP syndrome 1 1 Karl-Heinz Grzeschik
00116645 23316014-Fam7PatI3 PubMed: Bornholdt 2013 sister of Fam7PatI1 F ? France - - - - - IFAP1 Eczema and psoriasis; severe ichthyosis with palmo-plantar hyperkeratosis; ungual dysplasia; IFAP syndrome 1 1 Karl-Heinz Grzeschik
00116646 23316014-Fam7PatII2 PubMed: Bornholdt 2013 daughter of Fam7PatI3 F no France - - - - - IFAP1 Keratosis pilaris, mainly affecting the lower limbs; IFAP syndrome 1 1 Karl-Heinz Grzeschik
00116647 23316014-Fam8PatII2 PubMed: Bornholdt 2013 - M ? Germany - - - - - IFAP1 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 1 2 Karl-Heinz Grzeschik
00116648 23316014-Fam8PatII1 PubMed: Bornholdt 2013 sister of Fam8PatII2 F ? Germany - - - - - IFAP1 none reported; IFAP syndrome 1 1 Karl-Heinz Grzeschik
00116649 23316014-Fam16PatI1 PubMed: Bornholdt 2013 - M ? United States - - - - - IFAP1 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 1 1 Karl-Heinz Grzeschik
00116650 23316014-Fam19PatII1 PubMed: Bornholdt 2013 son of Fam19PatI1 M ? France - - - - - IFAP1 IFAP triad; mental retardation, vertebral anomalies; IFAP syndrome 1 2 Karl-Heinz Grzeschik
00116651 23316014-Fam19PatI1 PubMed: Bornholdt 2013 mother of Fam19PatII1 F ? France - - - - - IFAP1 none reported; IFAP syndrome 1 1 Karl-Heinz Grzeschik
00116652 23316014-Fam15PatII1 PubMed: Bornholdt 2013 brother of Fam15PatII2 M ? Lebanon - - - - - IFAP1 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 1 2 Karl-Heinz Grzeschik
00116653 23316014-Fam15PatII2 PubMed: Bornholdt 2013 brother of Fam15PatII1 M ? Lebanon - - - - - IFAP1 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 1 1 Karl-Heinz Grzeschik
00116654 23316014-Fam9PatII1 PubMed: Bornholdt 2013 - M ? Germany - - - - - IFAP1 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 1 3 Karl-Heinz Grzeschik
00116655 23316014-Fam9PatI1 PubMed: Bornholdt 2013 mother of Fam9PatII1 and Fam9PatII2 F ? Germany - - - - - IFAP1 Striate hyperkeratosis along Blaschko lines of both legs and soles with striate hypohidrosis (sweat testing). Histology from affected areas: ichthyosis follicularis; IFAP syndrome 1 1 Karl-Heinz Grzeschik
00116656 23316014-Fam9PatII2 PubMed: Bornholdt 2013 sister of Fam9PatII1 F ? Germany - - - - - IFAP1 Delayed speech development, skin phenotype:none reported; IFAP syndrome 1 1 Karl-Heinz Grzeschik
00116657 23316014-Fam13PatI1 PubMed: Bornholdt 2013 - M ? Algeria - - - - - IFAP1 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 1 1 Karl-Heinz Grzeschik
00116658 23316014-Fam11PatII1 PubMed: Bornholdt 2013 - M ? Syria - - - - - IFAP1 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 1 2 Karl-Heinz Grzeschik
00116659 23316014-Fam11PatII2 PubMed: Bornholdt 2013 brother of Fam11PatII1 M ? Syria - - - - - IFAP1 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 1 1 Karl-Heinz Grzeschik
00116660 23316014-Fam14PatII1 PubMed: Bornholdt 2013 - M ? Netherlands - - - - - IFAP1 IFAP; mild psychomotor delay; inguinal hernia; IFAP syndrome 1 2 Karl-Heinz Grzeschik
00116661 23316014-Fam14PatI1 PubMed: Bornholdt 2013 mother of Fam14PatII1 F ? Netherlands - - - - - IFAP1 Normal phenotype, without IFAP related problems; IFAP syndrome 1 1 Karl-Heinz Grzeschik
00116662 23316014-Fam18PatII2 PubMed: Bornholdt 2013 - M ? Sweden - - - - - KFSDX At birth dry, itchy skin, photophobia; at age 4 y corneal dots; at age 8 y widespread follicular hyperkeratosis, red cheeks, and thin eyebrows; hair on scalp appears normal; without family history of KFSD 1 1 Karl-Heinz Grzeschik
00116663 23316014-Fam17PatI1 PubMed: Bornholdt 2013 - M ? Sri Lanka - - - - - IFAP1 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 1 1 Karl-Heinz Grzeschik
00116664 19361614-Fam1PatI2 PubMed: Oeffner 2009 3-generation family, 5 affected carriers (3F, 2M), Fam1PatI2 F - Germany European - - - - ? dry skin, congenital bald patches scalp 1 5 Emmelien Aten
00116665 19361614-Fam1PatII2 PubMed: Oeffner 2009 Fam1PatII2 F - Germany European - - - - ? dry skin, congenital bald patches scalp, asymmetrical distribution body hair, linear lesions of scaling, atrophy/hypohidrosis arms/back; atypical 1 1 Emmelien Aten
00116666 19361614-Fam1PatII5 PubMed: Oeffner 2009 Fam1PatII5 M - Germany European - - - - IFAP1 death 1y; IFAP triad, pronounced photophobia; IFAPS 1 1 Emmelien Aten
00116667 19361614-Fam1PatIII1 PubMed: Oeffner 2009 Fam1PatIII1 M - Germany European - - - - IFAP1 IFAP triad, eczematous changes shoulders/limbs, frequent skin infections, nail dystrophy, ptosis left upper eyelid; IFAPS 1 1 Emmelien Aten
00116668 19361614-Fam1PatIII2 PubMed: Oeffner 2009 Fam1PatIII2 F - Germany European - - - - ? dry skin, linear lesions of scaling and atrophy, predominantly involving the left arm, congenital bald area scalp; atypical 1 1 Emmelien Aten
00116669 19361614-Fam2PatI2 PubMed: Oeffner 2009 4-generation family, 4 affected carriers (2F, 2M)/3 unaffected carriers (3F), Fam2PatI2 F - Australia European - - - - ? sparse hair 1 7 Emmelien Aten
00116670 19361614-Fam2PatII2 PubMed: Oeffner 2009 Fam2PatII2 F - Australia European - - - - ? unaffected carrier 1 1 Emmelien Aten
00116671 19361614-Fam2PatII8 PubMed: Oeffner 2009 Fam2PatII8 M - Australia European - - - - IFAP1 born with hair, subsequently developed alopecia, dystrophic fingernails; atypical; IFAPS 1 1 Emmelien Aten
00116672 19361614-Fam2PatIII1 PubMed: Oeffner 2009 Fam2PatIII1 M - Australia European - - - - IFAP1 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 1 1 Emmelien Aten
00116673 19361614-Fam2PatIII10 PubMed: Oeffner 2009 Fam2PatIII10 F - Australia European - - - - ? unaffected carrier 1 1 Emmelien Aten
00116674 19361614-Fam2PatIII2 PubMed: Oeffner 2009 Fam2PatIII2 F - Australia European - - - - ? 13y-parse scalp hair, dystrophic fingernails 1 1 Emmelien Aten
00116675 19361614-Fam2PatIII9 PubMed: Oeffner 2009 Fam2PatIII9 F - Australia European - - - - ? patchy scalp hair, dystrophic fingernails 1 1 Emmelien Aten
00116676 19361614-Fam2PatIV2 PubMed: Oeffner 2009 Fam2PatIV2 M - Australia European - - - - IFAP1 IFAP triad, dystrophic nails, perleche; IFAPS 1 1 Emmelien Aten
00116677 19361614-Fam3PatI2 PubMed: Oeffner 2009 3-generation family, 6 affected carriers (2F, 4M)/3 unaffected carriers (3F), Fam2PatI2 F - Germany European - - - - ? dry skin 1 9 Emmelien Aten
00116678 19361614-Fam3PatII2 PubMed: Oeffner 2009 Fam3PatII2 F - Germany European - - - - ? linear lesions atrophoderma, linear hairless scalp lesion, hyperkeratotic plaque right knee, bilateral plantar keratoderma; atypical 1 1 Emmelien Aten
00116679 19361614-Fam3PatII4 PubMed: Oeffner 2009 Fam3PatII4 F - Germany European - - - - ? linear lesions atrophoderma, partial absence retinal rods (right eye); atypical 1 1 Emmelien Aten
00116680 19361614-Fam3PatII5 PubMed: Oeffner 2009 Fam3PatII5 F - Germany European - - - - ? unaffected carrier 1 1 Emmelien Aten
00116681 19361614-Fam3PatII6 PubMed: Oeffner 2009 Fam3PatII6 M - Germany European - - - - ? death neonatal period; atrichia, cleft hand; lethal 1 1 Emmelien Aten
00116682 19361614-Fam3PatII7 PubMed: Oeffner 2009 Fam3PatII7 M - Germany European - - - - ? death neonatal period; atrichia, cleft hand; lethal 1 1 Emmelien Aten
00116683 19361614-Fam3PatIII1 PubMed: Oeffner 2009 Fam3PatIII1 F - Germany European - - - - ? unaffected carrier 1 1 Emmelien Aten
00116684 19361614-Fam3PatIII3 PubMed: Oeffner 2009 Fam3PatIII3 M - Germany European - - - - IFAP1 IFAPS 1 1 Emmelien Aten
00116685 19361614-Fam3PatIII4 PubMed: Oeffner 2009 Fam3PatIII4 M - Germany European - - - - IFAP1 IFAPS 1 1 Emmelien Aten
00116686 19361614-Fam4PatI1 PubMed: Oeffner 2009 mildly affected mother (dry skin, bald patches scalp) M - Spain European - - - - IFAP1 IFAP triad with pronounced photophobia, dermatitis arms/legs, corneal pannus; IFAPS 1 1 Emmelien Aten
00116687 19361614-Fam5PatI1 PubMed: Oeffner 2009, PatIV8 in PubMed: Boente 2000 - M - Argentina European - - - - IFAP1 IFAP triad, hyperkeratosis around joints, perlèche, perianal erythema, plantar keratoderma, subungual hyperkeratoses, periungual erythema and hyperkeratosis, inguinal hernia, cryptorchidism; IFAPS 1 1 Emmelien Aten
00116688 19361614-Fam6PatI2 PubMed: Oeffner 2009 ion family, 2 affected brothers and carrier mother PatI2 F - Algeria - - - - - ? - 1 3 Emmelien Aten
00116689 19361614-Fam6PatII1 PubMed: Oeffner 2009 Fam6PatII1 M - Algeria - - - - - IFAP1 IFAP triad; see paper ... 1 1 Emmelien Aten
00116690 19361614-Fam6PatII4 PubMed: Oeffner 2009 Fam6PatII4 M - Algeria - - - - - IFAP1 IFAP triad; IFAPS 1 1 Emmelien Aten
00116691 - PubMed: Ming 2009 maternal second cousin of 19361614.Fam2-I.2, mother of 19361614.Fam2-III.1 / .2 M - Australia European - - - - IFAP1 scalp alopecia; IFAPS 1 1 Emmelien Aten
00116692 20545687-FamPatIII1 PubMed: Ding 2010 3-generation family, carrier mother with 2 affected brothers, PatIII.2 M - China - - - - - IFAP1 born with full head of hair. dry and rough skin. hypotrochosis at age 9. mild photophobia. mild myopia; IFAP syndrome; no intellectual disability 1 2 Emmelien Aten
00116693 20545687-FamPatIII2 PubMed: Ding 2010 PatIII2 M - China - - - - - IFAP1 born with full head of hair, later patchy alopecia. photophobia. left inguinal hernia. widespread follicular papules; IFAP syndrome; no intellectual disability 1 1 Emmelien Aten
00116694 20672378-FamA PubMed: van Osch 1992, PubMed: Oosterwijk 1997, PubMed: Aten 2010 large 8-generation family, 21 male affecteds and 12 carriers M - Netherlands - - - - - KFSDX variable phenotype in females correlating with X-inactivation; normal plasma lipid profile; KFSD 1 33 Emmelien Aten
00116695 20672378-FamB PubMed: Aten 2010 large 4-generation family, 5 male affecteds and 3 carriers M - United States - - - - - KFSDX KFSD 1 8 Emmelien Aten
00116696 20672378-FamC PubMed: Porteous 1998, PubMed: Aten 2010 unrelated families M - United Kingdom (Great Britain) - - - - - KFSDX KFSD 1 1 Emmelien Aten
00116697 - - - M - Japan - - - - - IFAP1 congenital alopecia. photophobia. seizures. bilateral cryptorchidism. generalized skin dryness. thickened nails. delayed bone age. growth retardation. psychomotor retardation; IFAP syndrome; intellectual disability 1 1 Emmelien Aten
00116699 - - borther of Fam1.b M - United Kingdom (Great Britain) - - - - - IFAP1 7y-IFAP, corneal scarring, abnormal nails, development delay, growth retardation, head tilt, corneall involvement, brain abnormalities, seizures; IFAPS 1 1 Emmelien Aten
00116700 - - borther of Fam1.a M - United Kingdom (Great Britain) - - - - - IFAP1 4y-IFAP, corneal scarring, abnormal nails, development delay, growth retardation, head tilt, corneall involvement, brain abnormalities, seizures; IFAPS 1 1 Emmelien Aten
00116701 - - mother has several mild symptoms M - United Kingdom (Great Britain) - - - - - IFAP1 3y-IFAP, corneal scarring, developmental delay, growth retardation; IFAPS 1 2 Emmelien Aten
00116702 - - - M - United Kingdom (Great Britain) - - - - - IFAP1 15y-IFAP, developmental delay, head tilt; IFAPS 1 1 Emmelien Aten
00116703 - - - F - - - - - - - ? GWA 1 1 Emmelien Aten
00116704 - - variant reported by LDGA - - Canada - - - - - ? kfsd/ifap 1 1 Emmelien Aten
00116705 patient PubMed: Tang 2011 - M - China - - - - - IFAP1 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 2 1 Emmelien Aten
00116706 21426410-Pat3 PubMed: Oeffner 2011 - M - - Jewish-Ashkenazi - - - - IFAP1 typical IFAP, see paper ... 1 1 Johan den Dunnen
00295013 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00386950 - - - M no Ukraine - - - - - OI19 - 1 1 Lidiia Zhytnik
00433135 Pat115,1 PubMed: Stray-Pedersen 2017 2-generation family, 1 affected, unaffected heterozygous carrier mother M - Norway - - - - - IMD severe combined immunodeficiency 1 1 Johan den Dunnen
00466659 patient PubMed: Cuperus 2025, Journal: Cuperus 2025 2-generation family, 1 affected, unaffected non-carrier parents M no Netherlands - - - - - KFSD see paper; ..., normal birth, low birth weight (2,700g), small placenta, thin maternal cord; erythroderma, collodion membrane, scaling skin, facial erythema, hypohidrosis, non-cicatricial alopecia totalis, absent eyelashes, photophobia; 11m-non-specific febrile seizures, generalized hypohidrosis 1 1 Johan den Dunnen
00466660 FamPatIV5 PubMed: Chen 2019, Journal: Chen 2019 4-generation family, 10 affected, 6 female carriers M - China - - - - - KFSD see paper; ..., birth little hair, rough skin; 1y-no scalp hair; 20y-complete alopecia, no eyebrows, no eyelashes, dry skin, widespread follicular papules, normal teeth, no intellectual disability, no photophobia performance 1 10 Johan den Dunnen
00466661 patient PubMed: Zhang 2016, Journal: Zhang 2016 2-generation family, 1 affected, unaffected parents M - China - - - - - KFSD see paper; ..., mild photophobia; angular cheilitis, dystrophic nails, no scalp hair, no eyebrows, no eyelashes, spiky follicular hyperkeratosis predominantly on scalp and extensor surfaces extremities;normal hearing, normal vision, normal growth development, no intellectual disability 1 1 Johan den Dunnen
00466663 FamPatII1/III2 PubMed: Haghighi 2013 5-generation family, 2 affected males M yes Iran - - - - - OLMS see paper; ..., alopecia universalis, hyperkeratotic lesions, periorificial keratotic plaques, bilateral palmoplantar transgredient keratoderma, no hearing loss, no skeletal abnormalities, no dysmorphic features. 1 2 Johan den Dunnen
00466664 patient PubMed: Araujo 2015 - M - Portugal - - - - - IFAP see paper; ..., birth35w+5, weight 1570 g; 3m-universal alopecia; skin phototype II, no scalp hair, no eyebrows, no eyelashes; prominent forehead, large ears, generalized dryness skin, follicular papules/pustules on erythematous base scattered on trunk/upper and lower limbs 1 1 Johan den Dunnen
00466665 patient PubMed: Fong 2015 2-generation family, 1 affected, unaffected carrier mother M - United Kingdom (Great Britain) - - - - - IFAP see paper; ..., 5y-hair loss, roughened skin texture; birth no eyebrows, no eyelashes, normal scalp hair; photophobia; no intellectual disability 1 1 Johan den Dunnen
00466666 PamPatIV1 PubMed: Fong 2012 4-generation family, 4 affected, 2 affected carrier mothers M - United Kingdom (Great Britain) - - - - - KFSD see paper; ..., 6m-loss of eyebrows, roughness skin; marked loss both eyebrows, erythema, perifollicular accentuation,follicular hyperkeratosis, 1 4 Johan den Dunnen
00466667 patient PubMed: Pietrzak 2012 2-generation family, 1 affected, unaffected carrier mother/grandmother M - Poland - - - - - IFAP see paper; ..., ichthyosis, follicular, atrichia, photophobia, syndromepsoriasiform skin plaques, nail dystrophy, facial dysmorphy, mental retardation, severe skeletal abnormalities, chorea-like movements 1 1 Johan den Dunnen
00466668 patient PubMed: Naiki 2012 2-generation family, 1 affected, unaffected carrier mother M - Japan - - - - - ? see paper; ..., birth 38w, weight 1,996g (-2.6 SD), height 44 cm (-2.6 SD), OFC 32.5 cm (-0.5 SD); intrauterine growth retardation, no follicular ichthyosis, atrichia, photophobia, brain malformation, mental and growth retardation, skeletal (vertebrate) anomalies, Hirschsprung disease, no eye malformation, large ears, no cleft lip/palate, cryptorchidism, kidney malformation, microcephaly, seizures, deafness, no hand anomalies, no cardiac anomalies, no inguinal hernia, trachea anomalies, regression 1 1 Johan den Dunnen
00466669 patient PubMed: Nakayama 2011 2-generation family, 1 affected, unaffected carrier mother M - Japan - - - - - IFAP see paper; ..., fetal intrauterine growth retardation; birth 37w; 2y-seizures, severe mental retardation, severe growth retardation 1 1 Johan den Dunnen
00466670 patient PubMed: Wang 2013 2-generation family, 1 affected, unaffected carrier mother M - China - - - - - IFAP see paper; ..., ichthyosis, alopecia, photophobia, short stature, inguinal hernia, palmoplantar keratoderma, periorificial keratoderma, pachyonychia 1 1 Johan den Dunnen
00466671 patient PubMed: Izumi 2013 2-generation family, 1 affected, unaffected carrier mother M - United States - - - - - IFAP see paper; ..., 34w-birth, weight 10th-25th centile, height <10th centile, no hair, eczematous scaling erythema, xerosis with spiny follicular hyperkeratosis; frequent scalp skin infection; 11m-seizures; photosensitivity no eye anomalies; global developmental delay 1 1 Johan den Dunnen
00466672 patient PubMed: Corujeira 2013 - M - Portugal - - - - - ? see paper; ..., follicular ichthyosis, alopecia, photophobia, short stature, intellectual disability, no atopic manifestations, recurrent respiratory/cutaneous infections, no seizures, microcephaly, brain abnormalities, skeletal malformations, no cardiac defects, Hirschsprung disease, kidney malformation, no inguinal hernia, no cryptorchidism, no cleft palate, no eye anomalies, no ear anomalies 1 1 Johan den Dunnen
00466673 fetus PubMed: Lim 2023 4-generation family, 3 carrier females, fetus (terinated pregnancy) M - - - - - - - ? see paper;, terminated pregnancy; 12wg-1st trimester scan hypoplastic nasal bone; 20wg-shortening all long bones, bowing femurs/tibiae, normal ribs, normal chest circumference 1 1 Johan den Dunnen
00466674 patient PubMed: Ferrari 2017 - M - Argentina - - - - - IFAP see paper; ..., collodion baby, congenital hypothyroidism, cutaneous signs present since birth; spiny hyperkeratotic papules on scalp, ears, cheeks, elbows, and knees; periungual erythema on hands, generalized alopecia, photophobia; facial dysmorphism, atopic dermatitis-like lesions, plantar keratoderma 1 1 Johan den Dunnen
00466675 family PubMed: Nemer 2017 family, 2 affected brothers M - Lebanon - - - - - IFAP see paper; ..., total non-scarring alopecia, follicular ichthyosis trunk, generalized psoriasiform plaques, developmental delay, recurrent seizures, osteoporosis, renal insufficiency; younger brother ectrodactyly 1 1 Johan den Dunnen
00466676 patient PubMed: Yang 2019 3-generation family, 1 affected, 3 unaffected carrier females M - China - - - - - IFAP see paper; ..., 3m-gradual loss hair/eyebrows/eyelashes; follicular papules on scalp/ears/neck, dry skin, ichthyotic scales, mild photophobia 1 1 Johan den Dunnen
00466677 patient PubMed: Chen 2020 2-generation family, 1 affected, unaffected non-carrier parents M - China - - - - - IFAP see paper; ..., ichthyotic scaling, no hair, mild photophobia; mild xerosis, follicular hyperkeratosis 1 1 Johan den Dunnen
00466678 patient PubMed: Jiang 2019 2-generation family, 1 affected, unaffected carrier mother M - China - - - - - IFAP see p`per; ..., diffuse follicular hyperkeratosis, alopecia, photophobia; 3m-no hair, no eyelashes, no eyebrows 1 1 Johan den Dunnen
00466689 Pat10;Pat14 PubMed: Plachy 2019, PubMed: Plachy 2023 - M - Czech Republic - - - - - stature, short see paper; ..., growth hormone deficiency, B-cell immunity disorder, skin problems (hyperkeratosis, alopecia), corneal ulceratio; height SDS-4.48; birth weight SDS-1.06, length SDS-1.75 1 1 Johan den Dunnen
00466705 family PubMed: Khan 2019 2-generation family, 2 affected brothers, carrier mother M - United Arab Emirates - - - - - IFAP see paper; ..., congenital alopecia, microcephaly, dermatitis; seizures, neurodevelopmental regression; wheelchair-bound, tube-feeding diet, nonresponsive to verbal command; superficial punctate keratopathy in central band distribution, myopia, central optic nerve head large cupping; mother retinal venous tortuosity 1 2 Johan den Dunnen
00466706 FamPatIV8 PubMed: Basilious 2020 4-generation family, 8 affected, 5carrier females M - Canada - - - - - IFAP see paper; ..., ichthyotic skin, Hirschsprung disease, atrial septal defects,syrinx at cervicomedullary junction; hyperkeratotic eyelids, madarosis, lagophthalmos,otherwise clear corneas; bilateral central corneal epithelial defects; bilateral limbal thickening, peripheral corneal pannus with underlying stromal scarring, late fluorescein staining corneal surface; abnormal hyperreflective epithelial surface overlying thinned corneal stroma 1 8 Johan den Dunnen
00466707 patient PubMed: Murase 2020 - F - China - - - - - IFAP see paper; ..., brith dry skin, localized non-progressive non-scarring alopecia; 3y-hyperkeratosis feet; pronounced keratosis Achilles tendon; plantar keratoderma with transgrediens, ungual dysplasia; keratosis pilaris trunk/arms/legs.; esotropia, amblyopia, no photophobia; normal dentition, no intellectual disability; normal eyebrows, normal eyelashes 1 1 Johan den Dunnen
00466708 Fam1PatV7 PubMed: Lindert 2016 5-generation family, 12 affected, 8 unaffected carrier females M - Thailand - - - - - OI see paper; ..., prenatal fractures ribs/long bones; 2y-moderate short stature, blue sclerae, pectus carinatum bowing lower extremity long bones; no ichthyosis follicularis, no alopecia, no photophobia, no intellectual disability, no seizures; affected adult males fractures beginning during gestation, short stature, white sclerae, variable scoliosis, pectal deformity, striking tibial anterior angulation, generalized osteopenia 1 8 Johan den Dunnen
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