Disease #00298

Official abbreviation FDH
Name hypoplasia, dermal, focal (FDH)
OMIM ID 305600
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 218
Phenotype entries for this disease 217
Associated with 1 gene PORCN
Associated tissues -
Disease features X-linked dominant
Remarks -


Individuals

218 entries on 3 pages. Showing entries 1 - 100.
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00004220 - - - M no (Belgium) Caucasian 00y00m00d 0 - - FDH microphthalmia; coloboma of the retina; left-sided posterolateral diaphragmatic hernia; atrial septal defect (ASD); deceased day 0. PORCN PORCN 1 1 Paul Brady
00004221 - - - M no (Belgium) Caucasian 00y00m10d 0 - - FDH bilateral microphthalmia; dense intra-ocular tissue; large thoraco-lumbar spina bifida; hydronephrosis of left kidney; hypospadias; disarrayed toes; deceased day 10 due to respiratory insufficiency. PORCN PORCN 1 1 Paul Brady
00004223 - - skewed X-inactivation; 70/30 F no (Belgium) Caucasian >08y 0 - - FDH cutis aplasia of the scalp PORCN PORCN 1 1 Paul Brady
00004224 - - skewed X-inactivation; 88/18 F no (Belgium) Caucasian >05y 0 - - FDH normal; no phenotypic features PORCN PORCN 1 1 Paul Brady
00231006 36-II-1 - - F no Japan - - 0 - - FDH , Hyperpigmentation, nodular fat herniation, ridged dysplastic nails, dental malformations PORCN PORCN 1 1 Kaori Yamoto
00233852 - PubMed: Lombardi 2011 - F - Netherlands white - 0 - - FDH no nail dysplasia (-HP:0002164), skin hypoplasia (HP:0008065), no papilloma periorally (-HP:0040167), no papilloma elsewhere (-HP:0012740); syndactyly (HP:0001159), no ectrodactyly (-HP:0100257), no oligodactyly (-HP:0012165); no oligodontia (-HP:0000677), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); no microphthalmia (-HP:0000568), no coloboma (-HP:0000589); microcephaly (HP:0000252); no mental retardation (-HP:0001249); PORCN PORCN 1 1 Maria Paola Lombardi
00233853 - PubMed: Bornholdt 2009 - F - - - - 0 - - FDH dental defects; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), papilloma periorally (HP:0040167), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842); has oral features; microcephaly (HP:0000252); mental retardation (HP:0001249); PORCN PORCN 1 1 Maria Paola Lombardi
00233854 - PubMed: Harmsen 2009 - F - - - - 0 - - FDH camptodactyly, R preauricular appendage, umbilical hernia, low set ears, aniridia, glaucoma, thorax deformation, gastro esophageal reflux, large clitoris, hypoplastic labia; no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), no hyperpigmentation skin (-HP:0000953), no fat herniation (-HP:0008441); syndactyly (HP:0001159), ectrodactyly (HP:0100257); no oligodontia (-HP:0000677), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); significantly decreased vision (HP:0000572), microphthalmia (HP:0000568), coloboma (HP:0000589); microcephaly (HP:0000252); kidney malformation (HP:0012210); mental retardation (HP:0001249); IUGR (HP:0001511) PORCN PORCN 1 1 Maria Paola Lombardi
00233855 - PubMed: Wang 2007 - F - - - - 0 - - FDH developmental delay, yes; skin hypoplasia (HP:0008065), fat herniation (HP:0008441); syndactyly (HP:0001159), ectrodactyly (HP:0100257); microcephaly (HP:0000252); PORCN PORCN 1 1 Maria Paola Lombardi
00233856 Proband 2 PubMed: Clements 2009 adopted F - United Kingdom (Great Britain) white - 0 - - FDH lower limb hypoplasia, osteoporosis, ostheoarthritis, hearing loss, strabismus, giant cell tumour of bone; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); syndactyly (HP:0001159), ectrodactyly (HP:0100257); oligodontia (HP:0000677); hypohidrosis (HP:0000966) PORCN PORCN 1 1 Maria Paola Lombardi
00233857 - PubMed: Harmsen 2009 mother of FDH3b F - - - - 0 - - FDH short stature, one abortion, due to limb defects, 5 spontaneous; no patchy alopecia (-HP:0002232), no nail dysplasia (-HP:0002164), skin hypoplasia (HP:0008065), no hyperpigmentation skin (-HP:0000953), no fat herniation (-HP:0008441); no syndactyly (-HP:0001159); no oligodontia (-HP:0000677), no cleft lip/palate (-HP:0000202); no microphthalmia (-HP:0000568), no coloboma (-HP:0000589); no microcephaly (-HP:0000252); no omphalocele (-HP:0001539), no IUGR (-HP:0001511) PORCN PORCN 1 1 Maria Paola Lombardi
00233858 - PubMed: Harmsen 2009 daughter of FDH3a F - - - - 0 - - FDH hypoplastic R thumb, rudimentary preaxial polydactyly R, preauricular appendages, hypoplastic labia; no patchy alopecia (-HP:0002232), no nail dysplasia (-HP:0002164), skin hypoplasia (HP:0008065), hyperpigmentation skin (HP:0000953), no fat herniation (-HP:0008441); syndactyly (HP:0001159), polydactyly (HP:0010442); no oligodontia (-HP:0000677), cleft lip/palate (HP:0000202); thin protruding ear (HP:0000411); no microphthalmia (-HP:0000568), no coloboma (-HP:0000589); microcephaly (HP:0000252); heart defect (HP:0001627); no omphalocele (-HP:0001539), no IUGR (-HP:0001511) PORCN PORCN 1 1 Maria Paola Lombardi
00233859 - PubMed: Wang 2007 - F - - - - 0 - - FDH patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), fat herniation (HP:0008441); syndactyly (HP:0001159); significantly decreased vision (HP:0000572), microphthalmia (HP:0000568); PORCN PORCN 1 1 Maria Paola Lombardi
00233860 - PubMed: Wang 2007 - F - - - - 0 - - FDH nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), fat herniation (HP:0008441), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159); microphthalmia (HP:0000568), coloboma (HP:0000589); mental retardation (HP:0001249); PORCN PORCN 1 1 Maria Paola Lombardi
00233861 - PubMed: Harmsen 2009 - F - - - - 0 - - FDH clino-campodactyly R 5th finger, dental defects, strabismus, hypermetropia, asymmetric face, bulbous nasal tip, dorsal lymphedema of feet in infancy, single transverse crease on R palm; no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), hyperpigmentation skin (HP:0000953), fat herniation (HP:0008441), papilloma periorally (HP:0040167); no syndactyly (-HP:0001159); oligodontia (HP:0000677), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); significantly decreased vision (HP:0000572), no microphthalmia (-HP:0000568), no coloboma (-HP:0000589), tear duct obstruction (HP:0000579); microcephaly (HP:0000252); heart defect (HP:0001627); mental retardation (HP:0001249); omphalocele (HP:0001539), no IUGR (-HP:0001511) PORCN PORCN 1 1 Maria Paola Lombardi
00233862 - PubMed: Grzeschik 2007 - F - - - - 0 - - FDH dental defects, esophageal papillomas; nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842); has oral features; osteopathia striata (HP:001074) PORCN PORCN 1 1 Maria Paola Lombardi
00233863 - PubMed: Wang 2007 - F - - - - 0 - - FDH Blashkolinear pigmentation, costovertebral dyssegmentation, diastasis pubis; patchy alopecia (HP:0002232), skin hypoplasia (HP:0008065); ectrodactyly (HP:0100257); microphthalmia (HP:0000568); microcephaly (HP:0000252); mental retardation (HP:0001249); PORCN PORCN 1 1 Maria Paola Lombardi
00233864 - PubMed: Bornholdt 2009 - F - - - - 0 - - FDH dental defects; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), papilloma periorally (HP:0040167), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842); has oral features; PORCN PORCN 1 1 Maria Paola Lombardi
00233865 - PubMed: Harmsen 2009 - F - - - - 0 - - FDH coloboma iris and choroidea; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), hyperpigmentation skin (HP:0000953), no fat herniation (-HP:0008441); syndactyly (HP:0001159); no oligodontia (-HP:0000677), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); microphthalmia (HP:0000568), coloboma (HP:0000589); microcephaly (HP:0000252); no heart defect (-HP:0001627); omphalocele (HP:0001539), no IUGR (-HP:0001511) PORCN PORCN 1 1 Maria Paola Lombardi
00233866 - PubMed: Bornholdt 2009 - F - - - - 0 - - FDH dental defects, clinodactily; skin hypoplasia (HP:0008065); oligodactyly (HP:0012165); has oral features; microcephaly (HP:0000252); PORCN PORCN 1 1 Maria Paola Lombardi
00233867 1 PubMed: Maas 2009 - F - Netherlands white - 0 - - FDH hyperhidrosis, bicuspid aortic valve, renal reflux ; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), papilloma periorally (HP:0040167), no papilloma elsewhere (-HP:0012740); syndactyly (HP:0001159), polydactyly (HP:0010442); oligodontia (HP:0000677), enamel hypoplasia (HP:0006297), cleft lip/palate (HP:0000202); thin protruding ear (HP:0000411); significantly decreased vision (HP:0000572), no microphthalmia (-HP:0000568), no coloboma (-HP:0000589), no tear duct obstruction (-HP:0000579); microcephaly (HP:0000252); heart defect (HP:0001627), displaced anus (HP:0004397); no nipple hypoplasia in adults (-HP:0002557), no mammary hypoplasia in adults (-HP:0003187), caudal appendage (HP:0002825), acral abnormalities, occipitofrontal circumference less than P3-P10 (HP:0040195), height less than P3-P10 (HP:0004322) PORCN PORCN 1 1 Maria Paola Lombardi
00233868 - PubMed: Wang 2007 - M - - - - 0 - - FDH skin hypoplasia (HP:0008065); syndactyly (HP:0001159), ectrodactyly (HP:0100257); PORCN PORCN 1 1 Maria Paola Lombardi
00233869 - PubMed: Grzeschik 2007 - F - - - - 0 - - FDH dental defects, esophageal papillomas; skin hypoplasia (HP:0008065), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159); has oral features; PORCN PORCN 1 1 Maria Paola Lombardi
00233870 - PubMed: Grzeschik 2007 - F - - - - 0 - - FDH skin hypoplasia (HP:0008065); assymmetrical skeletal defects (HP:0011842); mental retardation (HP:0001249); osteopathia striata (HP:001074) PORCN PORCN 1 1 Maria Paola Lombardi
00233871 - PubMed: Bornholdt 2009 - F - - - - 0 - - FDH unilateral hexadactyly; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842); microphthalmia (HP:0000568), coloboma (HP:0000589); microcephaly (HP:0000252); PORCN PORCN 1 1 Maria Paola Lombardi
00233872 - communicated by MP Lombardi - F - United Kingdom (Great Britain) white - 0 - - FDH sacral dimple; patchy alopecia (HP:0002232), no nail dysplasia (-HP:0002164), skin hypoplasia (HP:0008065), no papilloma periorally (-HP:0040167), no papilloma elsewhere (-HP:0012740); syndactyly (HP:0001159), no polydactyly (-HP:0010442), no oligodactyly (-HP:0012165); oligodontia (HP:0000677), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); no significantly decreased vision (-HP:0000572), no microphthalmia (-HP:0000568), no coloboma (-HP:0000589), ; no kidney malformation (-HP:0012210), no hydronephrosis (-HP:0000126), ND; PORCN PORCN 1 1 Maria Paola Lombardi
00233873 patient 1 PubMed: Leoyklang 2009 - F - Thailand Thai - 0 - - FDH aniridia, R nipple absent, deformities of ribs; nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), fat herniation (HP:0008441); syndactyly (HP:0001159), ectrodactyly (HP:0100257); cleft lip/palate (HP:0000202); microphthalmia (HP:0000568); no kidney malformation (-HP:0012210); PORCN PORCN 1 1 Maria Paola Lombardi
00233874 - PubMed: Bornholdt 2009 - F - - - - 0 - - FDH dental defects, anophthalmia, hearing loss; patchy alopecia (HP:0002232), skin hypoplasia (HP:0008065); assymmetrical skeletal defects (HP:0011842), oligodactyly (HP:0012165); has oral features; significantly decreased vision (HP:0000572), microphthalmia (HP:0000568); PORCN PORCN 1 1 Maria Paola Lombardi
00233875 case report PubMed: Schaffer 2009 - F - Ecuador - - 0 - - FDH syringocystadenoma papilliferum, blashkolinear streaks of dermal hyperpigmentation, telangiectasias, hyperpigmented macules, soft yellow nodules; skin hypoplasia (HP:0008065); skeletal defects (HP:0011842); has oral features; eye anomalies (HP:0000478); PORCN PORCN 1 1 Maria Paola Lombardi
00233876 - PubMed: Harmsen 2009 - F - - - - 0 - - FDH coloboma R iris; no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), no hyperpigmentation skin (-HP:0000953), no fat herniation (-HP:0008441); syndactyly (HP:0001159), polydactyly (HP:0010442); no oligodontia (-HP:0000677), cleft lip/palate (HP:0000202); thin protruding ear (HP:0000411); microphthalmia (HP:0000568), coloboma (HP:0000589); microcephaly (HP:0000252); no heart defect (-HP:0001627); PORCN PORCN 1 1 Maria Paola Lombardi
00233877 - PubMed: Bornholdt 2009 - F - - - - 0 - - FDH bilateral blindness, hearing loss, facial cleft, absence deformities of bones, brain defects; skin hypoplasia (HP:0008065); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842), skeletal defects (HP:0011842); cleft lip/palate (HP:0000202); significantly decreased vision (HP:0000572); microcephaly (HP:0000252); mental retardation (HP:0001249); omphalocele (HP:0001539) PORCN PORCN 1 1 Maria Paola Lombardi
00233878 - PubMed: Wang 2007 - F - - - - 0 - - FDH diastasis pubis, costovertebral dyssegmentation; skin hypoplasia (HP:0008065); syndactyly (HP:0001159); microphthalmia (HP:0000568); PORCN PORCN 1 1 Maria Paola Lombardi
00233879 - PubMed: Bornholdt 2009 - M - - - - 0 - - FDH dental defects; skin hypoplasia (HP:0008065); syndactyly (HP:0001159); has oral features; coloboma (HP:0000589); PORCN PORCN 1 1 Maria Paola Lombardi
00233880 - PubMed: Bornholdt 2009 - F - - - - 0 - - FDH optic atrophy; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842), oligodactyly (HP:0012165); coloboma (HP:0000589); microcephaly (HP:0000252); kidney malformation (HP:0012210), hydronephrosis (HP:0000126), displaced anus (HP:0004397); PORCN PORCN 1 1 Maria Paola Lombardi
00233881 10 PubMed: Maas 2009 - F - Netherlands white - 0 - - FDH ala nasi coloboma, 2 ear tags, ASD; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), papilloma periorally (HP:0040167), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159), no polydactyly (-HP:0010442), oligodactyly (HP:0012165); no oligodontia (-HP:0000677), enamel hypoplasia (HP:0006297), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); significantly decreased vision (HP:0000572), microphthalmia (HP:0000568), coloboma (HP:0000589); hydronephrosis (HP:0000126), heart defect (HP:0001627); occipitofrontal circumference less than P3-P10 (HP:0040195), no caudal appendage (-HP:0002825), acral abnormalities PORCN PORCN 1 1 Maria Paola Lombardi
00233882 2 PubMed: Maas 2009 - F - United Kingdom (Great Britain) white - 0 - - FDH unilateral absent clavicle, breast cancer in underdeveloped mamma; no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), hyperpigmentation skin (HP:0000953), papilloma periorally (HP:0040167), no papilloma elsewhere (-HP:0012740); no syndactyly (-HP:0001159), no polydactyly (-HP:0010442), oligodactyly (HP:0012165); no oligodontia (-HP:0000677), enamel hypoplasia (HP:0006297), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); significantly decreased vision (HP:0000572), microphthalmia (HP:0000568), coloboma (HP:0000589), no tear duct obstruction (-HP:0000579); occipitofrontal circumference less than P3-P10 (HP:0040195), nipple hypoplasia in adults (HP:0002557), mammary hypoplasia in adults (HP:0003187), no hypohidrosis (-HP:0000966), height not less than P3-P10 (-HP:0004322), no caudal appendage (-HP:0002825), acral abnormalities PORCN PORCN 1 1 Maria Paola Lombardi
00233883 - PubMed: Harmsen 2009 mother and grandmother possibly affected F - - - - 0 - - FDH R leg shorter, Lymphedema, teleangiectasia, fibroma, bony cyst of fibula; patchy alopecia (HP:0002232), no nail dysplasia (-HP:0002164), skin hypoplasia (HP:0008065), hyperpigmentation skin (HP:0000953), no fat herniation (-HP:0008441); syndactyly (HP:0001159); oligodontia (HP:0000677), no cleft lip/palate (-HP:0000202); no microphthalmia (-HP:0000568), no coloboma (-HP:0000589); no microcephaly (-HP:0000252); hydronephrosis (HP:0000126), no heart defect (-HP:0001627); no omphalocele (-HP:0001539), no IUGR (-HP:0001511) PORCN PORCN 1 1 Maria Paola Lombardi
00233884 3 PubMed: Maas 2009 - M - United Kingdom (Great Britain) white - 0 - - FDH unilateral ptosis, midline skin hypoplasia trunc, hearing loss, ala nasi coloboma, irregular vermillion ; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), hyperpigmentation skin (HP:0000953), no papilloma periorally (-HP:0040167), no papilloma elsewhere (-HP:0012740); syndactyly (HP:0001159), no polydactyly (-HP:0010442), no oligodactyly (-HP:0012165), skeletal defects (HP:0011842); no oligodontia (-HP:0000677), enamel hypoplasia (HP:0006297), yes; thin protruding ear (HP:0000411); significantly decreased vision (HP:0000572), microphthalmia (HP:0000568), coloboma (HP:0000589), tear duct obstruction (HP:0000579); occipitofrontal circumference not less than P3-P10 (-HP:0040195), no nipple hypoplasia in adults (-HP:0002557), no mammary hypoplasia in adults (-HP:0003187), no hypohidrosis (-HP:0000966), height less than P3-P10 (HP:0004322), no caudal appendage (-HP:0002825), acral abnormalities PORCN PORCN 1 1 Maria Paola Lombardi
00233885 - PubMed: Wang 2007 - F - - - - 0 - - FDH skin hypoplasia (HP:0008065), fat herniation (HP:0008441); microphthalmia (HP:0000568); mental retardation (HP:0001249); PORCN PORCN 1 1 Maria Paola Lombardi
00233886 6 PubMed: Maas 2009 - F - Netherlands white - 0 - - FDH lymphedema legs; no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), papilloma periorally (HP:0040167), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159), no polydactyly (-HP:0010442), oligodactyly (HP:0012165); oligodontia (HP:0000677), enamel hypoplasia (HP:0006297), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); significantly decreased vision (HP:0000572), microphthalmia (HP:0000568), no coloboma (-HP:0000589), no tear duct obstruction (-HP:0000579); major internal organs anomalies; occipitofrontal circumference not less than P3-P10 (-HP:0040195), no nipple hypoplasia in adults (-HP:0002557), no mammary hypoplasia in adults (-HP:0003187), hypohidrosis (HP:0000966), height less than P3-P10 (HP:0004322), no caudal appendage (-HP:0002825), acral abnormalities PORCN PORCN 1 1 Maria Paola Lombardi
00233887 Patient 2 PubMed: Leoyklang 2009 c[.682C>T; 737_738insA] mutations are on same allele F - Thailand Thai - 0 - - FDH midface hypoplasia; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); ectrodactyly (HP:0100257), skeletal defects (HP:0011842); oligodontia (HP:0000677), cleft lip/palate (HP:0000202); microphthalmia (HP:0000568), coloboma (HP:0000589); no mental retardation (-HP:0001249); occipitofrontal circumference less than P3-P10 (HP:0040195), height less than P3-P10 (HP:0004322) PORCN PORCN 2 1 Maria Paola Lombardi
00233888 - PubMed: Grzeschik 2007 - F - - - - 0 - - FDH horseshoe kidney, mitral valve prolapse; skin hypoplasia (HP:0008065); assymmetrical skeletal defects (HP:0011842); microphthalmia (HP:0000568), coloboma (HP:0000589); major internal organs anomalies; omphalocele (HP:0001539) PORCN PORCN 1 1 Maria Paola Lombardi
00233889 - PubMed: Grzeschik 2007 - F - - - - 0 - - FDH dental defects; skin hypoplasia (HP:0008065); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842); has oral features; PORCN PORCN 1 1 Maria Paola Lombardi
00233890 - PubMed: Harmsen 2009 - F - - - - 0 - - FDH hypoplastic left heart, lethal outcome ; no patchy alopecia (-HP:0002232), skin hypoplasia (HP:0008065), no hyperpigmentation skin (-HP:0000953), no fat herniation (-HP:0008441); syndactyly (HP:0001159), oligodactyly (HP:0012165); no oligodontia (-HP:0000677), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); no microphthalmia (-HP:0000568), coloboma (HP:0000589); no microcephaly (-HP:0000252); heart defect (HP:0001627); omphalocele (HP:0001539), IUGR (HP:0001511) PORCN PORCN 1 1 Maria Paola Lombardi
00233891 - communicated by MP Lombardi - F - United Kingdom (Great Britain) - - 0 - - FDH has additional features; skin phenotype; skeletal defects (HP:0011842); has oral features; thin protruding ear (HP:0000411); eye anomalies (HP:0000478); PORCN PORCN 1 1 Raoul Hennekam
00233892 - PubMed: Smigiel 2011 born 09-02-2009 F - Poland white - 0 - - FDH Pentalogy of Cantrell, absence lower sternum, ectopia cordis, multiple limb malformations, anophtalmia (bilateral), agenesis corpus callosum, colpocephaly, unil. hear loss, bifid nose; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); syndactyly (HP:0001159); , cleft lip/palate (HP:0000202); thin protruding ear (HP:0000411); significantly decreased vision (HP:0000572); no heart defect (-HP:0001627), displaced anus (HP:0004397); mental retardation (HP:0001249); omphalocele (HP:0001539), caudal appendage (HP:0002825), IUGR (HP:0001511) PORCN PORCN 1 1 Maria Paola Lombardi
00233893 - PubMed: Lombardi 2011 born 05-12-2009 F - Sweden white - 0 - - FDH nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), no papilloma periorally (-HP:0040167), no papilloma elsewhere (-HP:0012740); syndactyly (HP:0001159), no ectrodactyly (-HP:0100257), no oligodactyly (-HP:0012165); no cleft lip/palate (-HP:0000202); no thin protruding ear (-HP:0000411); no microphthalmia (-HP:0000568), coloboma (HP:0000589); microcephaly (HP:0000252); no mental retardation (-HP:0001249); PORCN PORCN 1 1 Maria Paola Lombardi
00233894 - PubMed: Bornholdt 2009 - F - - - - 0 - - FDH hexadactyly; patchy alopecia (HP:0002232), skin hypoplasia (HP:0008065); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842), oligodactyly (HP:0012165), skeletal defects (HP:0011842); microphthalmia (HP:0000568), coloboma (HP:0000589); microcephaly (HP:0000252); kidney malformation (HP:0012210); PORCN PORCN 1 1 Maria Paola Lombardi
00233895 - PubMed: Wang 2007 - F - - - - 0 - - FDH nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), fat herniation (HP:0008441), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159); oligodontia (HP:0000677); coloboma (HP:0000589); no mental retardation (-HP:0001249); PORCN PORCN 1 1 Maria Paola Lombardi
00233896 - PubMed: Grzeschik 2007 - F - - - - 0 - - FDH patchy alopecia (HP:0002232), skin hypoplasia (HP:0008065); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842); coloboma (HP:0000589); PORCN PORCN 1 1 Maria Paola Lombardi
00233897 Proband 1 PubMed: Clements 2009 - F - United Kingdom (Great Britain) white - 0 - - FDH mid facial hypoplasia; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), hyperpigmentation skin (HP:0000953), fat herniation (HP:0008441); syndactyly (HP:0001159), scoliosis (HP:0002650), assymmetrical skeletal defects (HP:0011842), oligodactyly (HP:0012165); thin protruding ear (HP:0000411); omphalocele (HP:0001539) PORCN PORCN 1 1 Maria Paola Lombardi
00233898 - PubMed: Bornholdt 2009 - F - - - - 0 - - FDH dental defects, caudal cord defects; nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), papilloma periorally (HP:0040167), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842), skeletal defects (HP:0011842); cleft lip/palate (HP:0000202), yes; coloboma (HP:0000589); mental retardation (HP:0001249); omphalocele (HP:0001539) PORCN PORCN 1 1 Maria Paola Lombardi
00233899 11 PubMed: Maas 2009 sister of 12 F - Netherlands white - 0 - - FDH no additional features; no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), papilloma periorally (HP:0040167), papilloma elsewhere (HP:0012740); no syndactyly (-HP:0001159), no polydactyly (-HP:0010442), oligodactyly (HP:0012165); no oligodontia (-HP:0000677), enamel hypoplasia (HP:0006297), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); no significantly decreased vision (-HP:0000572), no microphthalmia (-HP:0000568), no coloboma (-HP:0000589), no tear duct obstruction (-HP:0000579); occipitofrontal circumference not less than P3-P10 (-HP:0040195), no nipple hypoplasia in adults (-HP:0002557), mammary hypoplasia in adults (HP:0003187), no hypohidrosis (-HP:0000966), height less than P3-P10 (HP:0004322), no caudal appendage (-HP:0002825), acral abnormalities PORCN PORCN 1 1 Maria Paola Lombardi
00233900 12 PubMed: Maas 2009 sister of 11 F - Netherlands white - 0 - - FDH ala nasi coloboma; no patchy alopecia (-HP:0002232), no nail dysplasia (-HP:0002164), skin hypoplasia (HP:0008065), no papilloma periorally (-HP:0040167), no papilloma elsewhere (-HP:0012740); no syndactyly (-HP:0001159), no polydactyly (-HP:0010442), oligodactyly (HP:0012165), skeletal defects (HP:0011842); oligodontia (HP:0000677), enamel hypoplasia (HP:0006297), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); no significantly decreased vision (-HP:0000572), no microphthalmia (-HP:0000568), coloboma (HP:0000589), no tear duct obstruction (-HP:0000579); occipitofrontal circumference not less than P3-P10 (-HP:0040195), no nipple hypoplasia in adults (-HP:0002557), mammary hypoplasia in adults (HP:0003187), no hypohidrosis (-HP:0000966), height less than P3-P10 (HP:0004322), no caudal appendage (-HP:0002825), acral abnormalities PORCN PORCN 1 1 Maria Paola Lombardi
00233901 patient 1 PubMed: Clements 2008 - F - Thailand Thai - 0 - - FDH dental caries; patchy alopecia (HP:0002232), skin hypoplasia (HP:0008065); syndactyly (HP:0001159); has oral features; osteopathia striata (HP:001074) PORCN PORCN 1 1 Maria Paola Lombardi
00233902 - PubMed: Lombardi 2011 - F - Sweden - - 0 - - FDH nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), papilloma periorally (HP:0040167), papilloma elsewhere (HP:0012740); no syndactyly (-HP:0001159), no ectrodactyly (-HP:0100257), no oligodactyly (-HP:0012165); no oligodontia (-HP:0000677), no cleft lip/palate (-HP:0000202); no thin protruding ear (-HP:0000411); no microphthalmia (-HP:0000568), no coloboma (-HP:0000589); no microcephaly (-HP:0000252); no mental retardation (-HP:0001249); PORCN PORCN 1 1 Maria Paola Lombardi
00233903 - PubMed: Grzeschik 2007 - F - - - - 0 - - FDH patchy alopecia (HP:0002232), skin hypoplasia (HP:0008065); assymmetrical skeletal defects (HP:0011842); osteopathia striata (HP:001074) PORCN PORCN 1 1 Maria Paola Lombardi
00233904 - PubMed: Bornholdt 2009 - F - - - - 0 - - FDH has additional features; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); assymmetrical skeletal defects (HP:0011842); mammary hypoplasia in adults (HP:0003187) PORCN PORCN 1 1 Maria Paola Lombardi
00233905 8 PubMed: Maas 2009 - F - Netherlands white - 0 - - FDH hearing loss, thoracic wall abnormalities; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), papilloma periorally (HP:0040167), no papilloma elsewhere (-HP:0012740); no syndactyly (-HP:0001159), no polydactyly (-HP:0010442), no oligodactyly (-HP:0012165); no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); no significantly decreased vision (-HP:0000572), no microphthalmia (-HP:0000568), no coloboma (-HP:0000589); no caudal appendage (-HP:0002825), acral abnormalities PORCN PORCN 1 1 Maria Paola Lombardi
00233906 8.1 PubMed: Maas 2009 fetus (of pat 8) F - Netherlands white - 0 - - FDH ectopia cordis, ala nasi coloboma, bilat renal agenesis, bilat fibula agenesis, anal atresia, diaphr hernia, butterfly T6, abdominal wall defect; nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), no papilloma periorally (-HP:0040167), no papilloma elsewhere (-HP:0012740); syndactyly (HP:0001159), no polydactyly (-HP:0010442), oligodactyly (HP:0012165), skeletal defects (HP:0011842); no cleft lip/palate (-HP:0000202); microphthalmia (HP:0000568); kidney malformation (HP:0012210), heart defect (HP:0001627); no caudal appendage (-HP:0002825), acral abnormalities PORCN PORCN 1 1 Maria Paola Lombardi
00233907 - PubMed: Lombardi 2011 - F - Denmark white - 0 - - FDH nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), papilloma periorally (HP:0040167), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159), ectrodactyly (HP:0100257), oligodactyly (HP:0012165); oligodontia (HP:0000677), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); microphthalmia (HP:0000568), coloboma (HP:0000589); microcephaly (HP:0000252); no mental retardation (-HP:0001249); PORCN PORCN 1 1 Maria Paola Lombardi
00233908 - PubMed: Froyen 2009 - F - Belgium white - 0 - - FDH dental anomalies; no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), no fat herniation (-HP:0008441), papilloma periorally (HP:0040167), papilloma elsewhere (HP:0012740); no syndactyly (-HP:0001159), ectrodactyly (HP:0100257), skeletal defects (HP:0011842); has oral features; microphthalmia (HP:0000568), coloboma (HP:0000589); mental retardation (HP:0001249); PORCN PORCN 1 1 Maria Paola Lombardi
00233909 - PubMed: Bornholdt 2009 - F - - - - 0 - - FDH dental defects; skin hypoplasia (HP:0008065); assymmetrical skeletal defects (HP:0011842), oligodactyly (HP:0012165); has oral features; coloboma (HP:0000589); microcephaly (HP:0000252); kidney malformation (HP:0012210); osteopathia striata (HP:001074) PORCN PORCN 1 1 Maria Paola Lombardi
00233910 - PubMed: Wang 2007 - F - - - - 0 - - FDH tooth anomalies, diastasis pubis; nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), fat herniation (HP:0008441); syndactyly (HP:0001159), ectrodactyly (HP:0100257), skeletal defects (HP:0011842); has oral features; microphthalmia (HP:0000568), coloboma (HP:0000589); PORCN PORCN 1 1 Maria Paola Lombardi
00233911 - PubMed: Wang 2007 - F - - - - 0 - - FDH skin hypoplasia (HP:0008065), papilloma elsewhere (HP:0012740); ectrodactyly (HP:0100257); microphthalmia (HP:0000568), coloboma (HP:0000589); mental retardation (HP:0001249); PORCN PORCN 1 1 Maria Paola Lombardi
00233912 - PubMed: Wang 2007 - M - - - - 0 - - FDH Blashkolinear pigmentation, tooth anomalies; skin hypoplasia (HP:0008065); ectrodactyly (HP:0100257); has oral features; PORCN PORCN 1 1 Maria Paola Lombardi
00233913 - PubMed: Grzeschik 2007 - F - - - - 0 - - FDH nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); PORCN PORCN 1 1 Maria Paola Lombardi
00233914 - PubMed: Wang 2007 - M - - - - 0 - - FDH Blashkolinear pigmentation; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); syndactyly (HP:0001159); no mental retardation (-HP:0001249); osteopathia striata (HP:001074) PORCN PORCN 1 1 Maria Paola Lombardi
00233915 - PubMed: Bornholdt 2009 mother has skin linear lesions F - - - - 0 - - FDH dental defects; skin hypoplasia (HP:0008065); assymmetrical skeletal defects (HP:0011842); has oral features; coloboma (HP:0000589); microcephaly (HP:0000252); PORCN PORCN 1 1 Maria Paola Lombardi
00233916 - PubMed: Harmsen 2009 - F - - - - 0 - - FDH dental defects, bilateral coloboma iris and retina, inguinal hernia, umbilical hernia, moderate hearing deficit, acute lymphatic leukemia, strabismus; no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), no hyperpigmentation skin (-HP:0000953), no fat herniation (-HP:0008441), yes; syndactyly (HP:0001159), ectrodactyly (HP:0100257); oligodontia (HP:0000677), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); microphthalmia (HP:0000568), coloboma (HP:0000589); microcephaly (HP:0000252); no heart defect (-HP:0001627); no mental retardation (-HP:0001249); IUGR (HP:0001511) PORCN PORCN 1 1 Maria Paola Lombardi
00233917 - PubMed: Wang 2007 - M - - - - 0 - - FDH costovertebral dyssegmentation, distasis pubis; nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); syndactyly (HP:0001159), ectrodactyly (HP:0100257); microphthalmia (HP:0000568), coloboma (HP:0000589); no mental retardation (-HP:0001249); no osteopathia striata (-HP:001074) PORCN PORCN 1 1 Maria Paola Lombardi
00233918 - PubMed: Bornholdt 2009 - F - - - - 0 - - FDH patchy alopecia (HP:0002232), skin hypoplasia (HP:0008065); assymmetrical skeletal defects (HP:0011842), oligodactyly (HP:0012165), skeletal defects (HP:0011842); PORCN PORCN 1 1 Maria Paola Lombardi
00233919 13 PubMed: Maas 2009 - F - United Kingdom (Great Britain) white - 0 - - FDH unilat extra nipple; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), no papilloma periorally (-HP:0040167), no papilloma elsewhere (-HP:0012740); syndactyly (HP:0001159), no polydactyly (-HP:0010442), no oligodactyly (-HP:0012165), skeletal defects (HP:0011842); no oligodontia (-HP:0000677), enamel hypoplasia (HP:0006297), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); no significantly decreased vision (-HP:0000572), no microphthalmia (-HP:0000568), no coloboma (-HP:0000589), no tear duct obstruction (-HP:0000579); occipitofrontal circumference less than P3-P10 (HP:0040195), no nipple hypoplasia in adults (-HP:0002557), mammary hypoplasia in adults (HP:0003187), no hypohidrosis (-HP:0000966), height not less than P3-P10 (-HP:0004322), no caudal appendage (-HP:0002825), acral abnormalities PORCN PORCN 1 1 Maria Paola Lombardi
00233920 Patient 3 PubMed: Leoyklang 2009 - F - Thailand Thai - 0 - - FDH bilateral anophtalmos split sternum, absent nail L 2nd finger, ; skin hypoplasia (HP:0008065); syndactyly (HP:0001159), scoliosis (HP:0002650), ectrodactyly (HP:0100257); oligodontia (HP:0000677), cleft lip/palate (HP:0000202); thin protruding ear (HP:0000411); significantly decreased vision (HP:0000572), microphthalmia (HP:0000568); mental retardation (HP:0001249); PORCN PORCN 1 1 Maria Paola Lombardi
00233921 - PubMed: Froyen 2009 - F - Finland white - 0 - - FDH dental anomalis; no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), no fat herniation (-HP:0008441), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159), no ectrodactyly (-HP:0100257); has oral features; no microphthalmia (-HP:0000568), coloboma (HP:0000589); no mental retardation (-HP:0001249); PORCN PORCN 1 1 Maria Paola Lombardi
00233922 - PubMed: Bornholdt 2009 - M - - - - 0 - - FDH has additional features; skin hypoplasia (HP:0008065); PORCN PORCN 1 1 Maria Paola Lombardi
00233923 - PubMed: Wang 2007 - F - - - - 0 - - FDH skin hypoplasia (HP:0008065); ectrodactyly (HP:0100257); PORCN PORCN 1 1 Maria Paola Lombardi
00233924 14 PubMed: Maas 2009 - F - United Kingdom (Great Britain) white - 0 - - FDH no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), no papilloma periorally (-HP:0040167), no papilloma elsewhere (-HP:0012740); syndactyly (HP:0001159), no polydactyly (-HP:0010442), no oligodactyly (-HP:0012165); no oligodontia (-HP:0000677), enamel hypoplasia (HP:0006297), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); significantly decreased vision (HP:0000572), microphthalmia (HP:0000568), coloboma (HP:0000589); nipple hypoplasia in adults (HP:0002557), mammary hypoplasia in adults (HP:0003187), no caudal appendage (-HP:0002825), acral abnormalities PORCN PORCN 1 1 Maria Paola Lombardi
00233925 - PubMed: Bornholdt 2009 - F - - - - 0 - - FDH hearing loss; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842), oligodactyly (HP:0012165); coloboma (HP:0000589); microcephaly (HP:0000252); kidney malformation (HP:0012210); omphalocele (HP:0001539) PORCN PORCN 1 1 Maria Paola Lombardi
00233926 - PubMed: Harmsen 2009 - F - - - - 0 - - FDH abdominal wall defect+bladder ectopia, single umbilical artery, lateral displacement of pubic bones; no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), no hyperpigmentation skin (-HP:0000953), fat herniation (HP:0008441); syndactyly (HP:0001159), ectrodactyly (HP:0100257), oligodactyly (HP:0012165); oligodontia (HP:0000677), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); microphthalmia (HP:0000568), coloboma (HP:0000589); microcephaly (HP:0000252); no heart defect (-HP:0001627); mental retardation (HP:0001249); IUGR (HP:0001511) PORCN PORCN 1 1 Maria Paola Lombardi
00233927 - PubMed: Bornholdt 2009 - M - - - - 0 - - FDH optic atrophy, dental defects, inguinal hernia, seizures; patchy alopecia (HP:0002232), skin hypoplasia (HP:0008065), papilloma periorally (HP:0040167), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842); has oral features; microcephaly (HP:0000252); PORCN PORCN 1 1 Maria Paola Lombardi
00233928 - PubMed: Harmsen 2009 - F - - - - 0 - - FDH clinodactyly, dental defects, asymmetric face; no patchy alopecia (-HP:0002232), no nail dysplasia (-HP:0002164), skin hypoplasia (HP:0008065), no hyperpigmentation skin (-HP:0000953), no fat herniation (-HP:0008441); syndactyly (HP:0001159); no oligodontia (-HP:0000677), no cleft lip/palate (-HP:0000202); no microphthalmia (-HP:0000568), no coloboma (-HP:0000589); no microcephaly (-HP:0000252); no heart defect (-HP:0001627), ND; no omphalocele (-HP:0001539), no IUGR (-HP:0001511), ND PORCN PORCN 1 1 Maria Paola Lombardi
00233929 9 PubMed: Maas 2009 - F - Netherlands white - 0 - - FDH unilat aplasia fibula, dermal hypoplasia only lower limbs; no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), no papilloma periorally (-HP:0040167), no papilloma elsewhere (-HP:0012740); syndactyly (HP:0001159), no polydactyly (-HP:0010442), oligodactyly (HP:0012165), skeletal defects (HP:0011842); no oligodontia (-HP:0000677), enamel hypoplasia (HP:0006297), no cleft lip/palate (-HP:0000202), yes; thin protruding ear (HP:0000411); no significantly decreased vision (-HP:0000572), no microphthalmia (-HP:0000568), no coloboma (-HP:0000589), ND; occipitofrontal circumference not less than P3-P10 (-HP:0040195), nipple hypoplasia in adults (HP:0002557), mammary hypoplasia in adults (HP:0003187), hypohidrosis (HP:0000966), height not less than P3-P10 (-HP:0004322), no caudal appendage (-HP:0002825), acral abnormalities PORCN PORCN 1 1 Maria Paola Lombardi
00233930 - PubMed: Bornholdt 2009 - F - - - - 0 - - FDH skin hypoplasia (HP:0008065); scoliosis (HP:0002650), oligodactyly (HP:0012165); cleft lip/palate (HP:0000202); coloboma (HP:0000589); PORCN PORCN 1 1 Maria Paola Lombardi
00233931 - PubMed: Bornholdt 2009 - F - - - - 0 - - FDH dental defects; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842), oligodactyly (HP:0012165); has oral features; PORCN PORCN 1 1 Maria Paola Lombardi
00233932 - PubMed: Harmsen 2009 - F - - - - 0 - - FDH pulmonic atresia, atrial and ventricular septal defects,overriding aorta, umbilical hernia, low set ears, orbital cyst, brachycephaly, pachygyria, abnormal EEG, uterus and vaginal aplasia, lethal outcome ; no patchy alopecia (-HP:0002232), no nail dysplasia (-HP:0002164), skin hypoplasia (HP:0008065), hyperpigmentation skin (HP:0000953), no fat herniation (-HP:0008441); syndactyly (HP:0001159), ectrodactyly (HP:0100257); no oligodontia (-HP:0000677), no cleft lip/palate (-HP:0000202); significantly decreased vision (HP:0000572), microphthalmia (HP:0000568), no coloboma (-HP:0000589); no microcephaly (-HP:0000252); heart defect (HP:0001627), ND; IUGR (HP:0001511) PORCN PORCN 1 1 Maria Paola Lombardi
00233933 - PubMed: Bornholdt 2009 - M - - - - 0 - - FDH sacral dimple; skin hypoplasia (HP:0008065); syndactyly (HP:0001159), polydactyly (HP:0010442), assymmetrical skeletal defects (HP:0011842); PORCN PORCN 1 1 Maria Paola Lombardi
00233934 - PubMed: Harmsen 2009 - F - - - - 0 - - FDH hypoplastic thumbs, bladder extrophy, horshoe kidney, no periauricular appendages; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), hyperpigmentation skin (HP:0000953), fat herniation (HP:0008441); syndactyly (HP:0001159), polydactyly (HP:0010442), ectrodactyly (HP:0100257); oligodontia (HP:0000677), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); no microphthalmia (-HP:0000568), no coloboma (-HP:0000589); microcephaly (HP:0000252); kidney malformation (HP:0012210), ND; mental retardation (HP:0001249); no omphalocele (-HP:0001539), height less than P3-P10 (HP:0004322), IUGR (HP:0001511) PORCN PORCN 1 1 Maria Paola Lombardi
00233935 4 PubMed: Maas 2009 - F - United Kingdom (Great Britain) white - 0 - - FDH telangiectasias; no patchy alopecia (-HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), hyperpigmentation skin (HP:0000953), no papilloma periorally (-HP:0040167), no papilloma elsewhere (-HP:0012740); no syndactyly (-HP:0001159), no polydactyly (-HP:0010442), no oligodactyly (-HP:0012165); oligodontia (HP:0000677), no enamel hypoplasia (-HP:0006297), cleft lip/palate (HP:0000202); thin protruding ear (HP:0000411); significantly decreased vision (HP:0000572), microphthalmia (HP:0000568), coloboma (HP:0000589), tear duct obstruction (HP:0000579); occipitofrontal circumference less than P3-P10 (HP:0040195), mammary hypoplasia in adults (HP:0003187), no hypohidrosis (-HP:0000966), height less than P3-P10 (HP:0004322), caudal appendage (HP:0002825), acral abnormalities PORCN PORCN 1 1 Maria Paola Lombardi
00233936 5 PubMed: Maas 2009 - F - Slovenia white - 0 - - FDH has additional features; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), no papilloma periorally (-HP:0040167), no papilloma elsewhere (-HP:0012740); no syndactyly (-HP:0001159), no polydactyly (-HP:0010442), oligodactyly (HP:0012165); no oligodontia (-HP:0000677), no enamel hypoplasia (-HP:0006297), no cleft lip/palate (-HP:0000202); thin protruding ear (HP:0000411); significantly decreased vision (HP:0000572), microphthalmia (HP:0000568), no coloboma (-HP:0000589), no tear duct obstruction (-HP:0000579); occipitofrontal circumference less than P3-P10 (HP:0040195), no nipple hypoplasia in adults (-HP:0002557), mammary hypoplasia in adults (HP:0003187), hypohidrosis (HP:0000966), height not less than P3-P10 (-HP:0004322), no caudal appendage (-HP:0002825), acral abnormalities PORCN PORCN 1 1 Maria Paola Lombardi
00233937 5.1 PubMed: Maas 2009 fetus 1 (of pat 5) F - Slovenia white - 0 - - FDH unilateral agenesis kidney,ectopia cordis, ala nasi coloboma, VSD, diaphr abnor, abdom wall defects, supracerebellar cyst; nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); no polydactyly (-HP:0010442), oligodactyly (HP:0012165); cleft lip/palate (HP:0000202); microphthalmia (HP:0000568); occipitofrontal circumference less than P3-P10 (HP:0040195), height less than P3-P10 (HP:0004322), no caudal appendage (-HP:0002825), acral abnormalities PORCN PORCN 1 1 Maria Paola Lombardi
00233938 5.2 PubMed: Maas 2009 fetus 2 (of pat 5) F - Slovenia white - 0 - - FDH unilateral agenesis kdney, two ear tags, midline skin defect trunk; nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); syndactyly (HP:0001159), no polydactyly (-HP:0010442), oligodactyly (HP:0012165); cleft lip/palate (HP:0000202); microphthalmia (HP:0000568); omphalocele (HP:0001539), occipitofrontal circumference less than P3-P10 (HP:0040195), height less than P3-P10 (HP:0004322), acral abnormalities PORCN PORCN 1 1 Maria Paola Lombardi
00233939 7 PubMed: Maas 2009 - F - Netherlands white - 0 - - FDH has additional features; skin phenotype; skeletal defects (HP:0011842); has oral features; thin protruding ear (HP:0000411); eye anomalies (HP:0000478); PORCN PORCN 1 1 Maria Paola Lombardi
00233940 - PubMed: Bornholdt 2009 - F - - - - 0 - - FDH dental defects; patchy alopecia (HP:0002232), nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065), papilloma periorally (HP:0040167), papilloma elsewhere (HP:0012740); syndactyly (HP:0001159), assymmetrical skeletal defects (HP:0011842); has oral features; PORCN PORCN 1 1 Maria Paola Lombardi
00233941 - PubMed: Bornholdt 2009 - F - - - - 0 - - FDH nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); assymmetrical skeletal defects (HP:0011842), oligodactyly (HP:0012165), skeletal defects (HP:0011842); PORCN PORCN 1 1 Maria Paola Lombardi
00233942 - PubMed: Bornholdt 2009 - F - - - - 0 - - FDH nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); assymmetrical skeletal defects (HP:0011842), oligodactyly (HP:0012165); mammary hypoplasia in adults (HP:0003187) PORCN PORCN 1 1 Maria Paola Lombardi
00233943 - PubMed: Bornholdt 2009 - F - - - - 0 - - FDH skin hypoplasia (HP:0008065); oligodactyly (HP:0012165); eye anomalies (HP:0000478); omphalocele (HP:0001539) PORCN PORCN 1 1 Maria Paola Lombardi
00233944 - PubMed: Grzeschik 2007 - F - - - - 0 - - FDH nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); mammary hypoplasia in adults (HP:0003187) PORCN PORCN 1 1 Maria Paola Lombardi
00233945 - PubMed: Grzeschik 2007 - F - - - - 0 - - FDH nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); assymmetrical skeletal defects (HP:0011842); PORCN PORCN 1 1 Maria Paola Lombardi
00233946 - PubMed: Grzeschik 2007 - F - - - - 0 - - FDH tetralogy of Fallot; nail dysplasia (HP:0002164), skin hypoplasia (HP:0008065); assymmetrical skeletal defects (HP:0011842); heart defect (HP:0001627); PORCN PORCN 1 1 Maria Paola Lombardi
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