All individuals with variants in gene FGD1

51 entries on 1 page. Showing entries 1 - 51.
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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) 2 1 Yu Sun
00050543 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - ? abnormality of the cardiovascular system, severe expressive language delay, delayed speech and language development, hypopigmented skin patches, contracture of the metacarpophalangeal joint of the 3rd finger, global developmental delay, hyperactivity, autism 1 1 Johan den Dunnen
00058631 19377194-Pat? PubMed: Tarpey 2009 - ? - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00058632 19377195-Pat? PubMed: Tarpey 2009 - ? - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 3 Lucy Raymond
00058633 19377196-Pat? PubMed: Tarpey 2009 - ? - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 2 Lucy Raymond
00058634 19377197-Pat? PubMed: Tarpey 2009 - ? - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00058640 - PubMed: Fryns 1992 - M - - - - - - - AAS;MRX16 - 1 1 Emmelien Aten
00058641 - PubMed: Orrico 2004 identical twin with patient 91 M - Italy - - - - - AAS;MRX16 short stature(121cm o5th percentile), joint hypermobility, small and short hands and feet, brachydactyly and Camptodactyly 1 1 Emmelien Aten
00058642 - PubMed: Orrico 2004 identical twin with patient 90 M - Italy - - - - - AAS;MRX16 short stature (121cm o5th percentile), joint hypermobility, small and short hands and feet, brachydactyly and camptodactyly 1 1 Emmelien Aten
00058643 - PubMed: Orrico 2004 - M - Portugal - - - - - AAS;MRX16 impairment in expressive language and speech articulation difficulties, emotional behaviour problems with occasional temper tantrums, short stature (132.5 cm; 5th percentile), moderate rhizomelia of upper and lower limbs, short hands with cutaneous syndactyly of fingers, a surgically corrected right-sided cryptorchidism and over-riding scrotum. Craniofacial findings included relative macrocephaly, frontal bossing, hypertelorism (inner canthal distance 3.5 cm; 497th percentile – outer canthal distance 11 cm; 497th percentile), down slant of palpebral fissures, short nose with anteverted nostrils, wide philtrum and thin upper lip 1 1 Emmelien Aten
00058644 - PubMed: Orrico 2010 - M - - European - - - - AAS;MRX16 hypertelorism, short nose/ Ant. Nares, Short broad hands, Short stature, Shawl scrotum, Short fifth finger/Clinod, Abnormal auricles, Broad feet, Cryptorchidism, 1 1 Emmelien Aten
00058645 - PubMed: Orrico 2004 - M - - European - - - - AAS;MRX16 dysmorphic facial appearance, shawl scrotum and short stature, hypertelorism (inner canthal distance 3.9 cm; 497th percentile – outer canthal distance 11.5 cm; 497th percentile), left palpebral ptosis and strabismus, a short neck, camptodactyly and brachydactyly 1 1 Emmelien Aten
00058646 - PubMed: Orrico 2007 - M - Argentina ? - - - - AAS;MRX16 he is a boy of short stature (151 cm; 3th centile) with OFC of 54 cm (25th centile), widow’s peak, synophrys, inner canthal distance of 3.5 cm (90th centile) and outer canthal distance 10 cm (97th centile). Dysmorphic features include downslanting palpebral fissures, palpebral ptosis, short and convex nose, long philtrum, right maxillary hypoplasia with right microtia, curved linear dimple below the lower lip, short neck, pectus excavatum, brachydactyly with mild soft tissue webbing between the fingers, single crease in the fifth fingers 1 1 Emmelien Aten
00058647 - PubMed: Orrico 2004 - M - - European - - - - AAS;MRX16 unusual facial appearance and short stature. hypertelorism (inner canthal distance 3.9 cm; 497th percentile – outer canthal distance 11.5 cm; 497th percentile), antimongoloid slant of palpebral fissures, widow’s peak, small nose with anteverted nares, long philtrum, cutaneous syndactyly with brachydactyly and clinodactyly of the Vth fingers, transverse palmar crease. The child also had a shawl scrotum, right cryptorchidism, a small right inguinal hernia and an umbilical hernia. 1 1 Emmelien Aten
00058648 - PubMed: Orrico 2010 - M - - European - - - - AAS;MRX16 hypertelorism, short nose/ Ant. Nares, Short broad hands, Short stature, Shawl scrotum, Widow's peak, Abnormal auricles, 1 1 Emmelien Aten
00058649 - PubMed: Orrico 2010 - M - - European - - - - AAS;MRX16 hypertelorism, short nose/ Ant. Nares, Short broad hands, Short stature, Shawl scrotum, Interdigital webbing, Camptodactily, Widow's peak, Ptosis, Broad feet, Cryptorchidism, ingui./umbilical hernia, 1 1 Emmelien Aten
00058650 - PubMed: Orrico 2010 - M - - European - - - - AAS;MRX16 hypertelorism, short nose/ Ant. Nares, Short broad hands, Short stature, Crease below lower lip, Interdigital webbing, Short fifth finger/Clinod, Camptodactily, Ptosis, Downward slant palp., Broad feet, 1 1 Emmelien Aten
00058651 - PubMed: Orrico 2010 - M - - European - - - - AAS;MRX16 hypertelorism, short nose/ Ant. Nares, Short broad hands, Short stature, Shawl scrotum, Crease below lower lip, Short fifth finger/Clinod, Widow's peak, Ptosis, Abnormal auricles, ingui./umbilical hernia, 1 1 Emmelien Aten
00058652 - PubMed: Orrico 2010 - M - - European - - - - AAS;MRX16 hypertelorism, short nose/ Ant. Nares, Short broad hands, Short stature, Shawl scrotum, Crease below lower lip, Short fifth finger/Clinod, Widow's peak, Ptosis, Downward slant palp., Broad feet, Prominent umbilicus, 1 1 Emmelien Aten
00058653 - PubMed: Orrico 2010 - M - - European - - - - AAS;MRX16 hypertelorism, short nose/ Ant. Nares, Short broad hands, Short stature, Shawl scrotum, Crease below lower lip, Short fifth finger/Clinod, Camptodactily, Widow's peak, Downward slant palp., Abnormal auricles, Joint hyperextension, Broad feet, Cryptorchidism, 1 1 Emmelien Aten
00058654 - PubMed: Orrico 2010 - M - - European - - - - AAS;MRX16 hypertelorism, short nose/ Ant. Nares, Short broad hands, Short stature, Shawl scrotum, Crease below lower lip, Interdigital webbing, Short fifth finger/Clinod, Widow's peak, Abnormal auricles, Joint hyperextension, Broad feet, Cryptorchidism, 1 1 Emmelien Aten
00058655 - PubMed: Orrico 2010 - M - - European - - - - AAS;MRX16 hypertelorism, short nose/ Ant. Nares, Short broad hands, Short stature, Shawl scrotum, Short fifth finger/Clinod, Camptodactily, Broad feet, Cryptorchidism, 1 1 Emmelien Aten
00058656 - PubMed: Orrico 2010 - M - - European - - - - AAS;MRX16 hypertelorism, short nose/ Ant. Nares, Short broad hands, Short stature, Shawl scrotum, Crease below lower lip, Widow's peak, Downward slant palp., Abnormal auricles, Broad feet, 1 1 Emmelien Aten
00058657 - PubMed: Orrico 2010 - M - - European - - - - AAS;MRX16 hypertelorism, short nose/ Ant. Nares, Short broad hands, Short stature, Shawl scrotum, Interdigital webbing, Short fifth finger/Clinod, Camptodactily, Widow's peak, Cryptorchidism, 1 1 Emmelien Aten
00058658 - PubMed: Orrico 2004 - M - - European - - - - AAS;MRX16 round face, hypertelorism, epicanthic folds, widow’s peak, small nose with anteverted nares, long philtrum, cutaneous syndactyly with brachydactyly and clinodactyly of the IVth and Vth fingers, right inguinal hernia, umbilical hernia, shawl scrotum, short stature and bilateral varus metatarsus 1 1 Emmelien Aten
00058659 - PubMed: Orrico 2005 - M - - ? - - - - AAS;MRX16 short stature (159 cm, 3rd centile), low weight (48 kg, 5th centile), and normal cephalic circumference (54 cm). Inner canthal distance was 2.7 cm (5th centile), interpupillary distance was 5 cm (5th centile), and outer canthal distance was 9.5 cm (90th centile). downslanting palpebral fissures with bilateral ptosis and strabismus, broad and bulbous nose, medial extension of eyebrows, dysmorphic and low set auricles, maxillary hypoplasia, ogival palatus, protuberant lips, and relative micrognathia. He was hypotonic and had hyperextensible joints. He had brachydactyly (middle finger length 7 cm, 3rd centile; palm length 10 cm, 25th centile) with mild webbing between the third and fourth fingers and bilateral single transverse palmar creases. There was a prominent umbilicus and a narrow chest with pectus excavatus. Hypernasal speech was noted. 1 1 Emmelien Aten
00058660 - PubMed: Orrico 2004 - M - - European - - - - AAS;MRX16 short stature (125 cm; 3rd percentile) and mild learning and behavioural disabilities (hyperactivity and attention deficit). Clinical examination revealed hypertelorism (inner canthal distance 3.5 cm; 97th percentile – outer canthal distance 9.5 cm; 97th percentile), left palpebral ptosis, short nose with anteverted nostrils, long philtrum, posteriorly angulated low-set ears, prominent umbilicus, hyperextensible joints and brachydactyly with cutaneous II–V syndactyly 1 1 Emmelien Aten
00058661 - PubMed: Orrico 2004 - M - - European - - - - AAS;MRX16 long face, telecanthus (inner canthal distance 3.7 cm; 497th percentile – outer canthal distance 8.5 cm; 80th percentile), short nose with anteverted nostrils, long philtrum, micrognatia and posteriorly angulated low-set ears. He had short stature (105 cm; o3th percentile), pectus excavatum, hyperextensible joints, brachydactyly with cutaneous I–V syndactyly, single palmar creases, hypospadias and right cryptorchidism 1 1 Emmelien Aten
00058662 - PubMed: Orrico 2004 - M - - European - - - - AAS;MRX16 widow’s peak, hypertelorism, epicanthic folds, down-slanting palpebral fissures with bilateral palpebral ptosis, short and broad nose with anteverted nostrils, IVth and Vth fingers camptodactyly, shawl scrotum and inguinal hernias 1 1 Emmelien Aten
00058663 - PubMed: Orrico 2004 - M - Ireland ? - - - - AAS;MRX16 hypertelorism , slight downward slant palpebral fissures, short nose, broad philtrum, broad mouth, short broad hand, shawl scrotum . The patient has progressed through puberty satisfactorily attaining a normal height (175 cm). 1 1 Emmelien Aten
00058664 - PubMed: Orrico 2000 - M - Italy ? - - - - AAS;MRX16 short stature (87 cm, 32 S.D.) and normal intelligence with round faces, prominent foreheads with widow's peak, hypertelorism, antimongoloid slant of palpebral fessures, bilateral ptosis, hypoplasia of the midface, short and broad nose with anteverted nostrils and long broad philtrum, small hands and feet; the typical genital appearance reported in AAS (shawl scrotum) was not evident, while bilateral criptorchidism had been surgically corrected 1 1 Emmelien Aten
00058665 - PubMed: Kaname 2006 - M - - ? - - - - AAS;MRX16 Short stature, Frontal bossing, Hypertelorism, Blepharoptosis, Broad hands and feet , Short fingers, Interdigital webbing, Hyperextensible proximal interphalangeal joints , Flexion of distal interphalangeal joints, Shawl scrotum , Attention deficit/hyperactivity disorder 1 1 Emmelien Aten
00058666 - PubMed: Kaname 2006 - M - - ? - - - - AAS;MRX16 Aspergersyndrome; short stature, Frontal bossing, Hypertelorism, Broad hands and feet, Short fingers, Interdigital webbing, Hyperextensible proximal interphalangeal joints, Flexion of distal interphalangeal joints, Shawl scrotum 1 1 Emmelien Aten
00058667 - PubMed: Pasteris 1994 - M - - ? - - - - AAS;MRX16 - 1 1 Emmelien Aten
00058668 - PubMed: Bottani 2007 - M - - Kosovo-Albanian - - - - AAS;MRX16 shawl scrotum, pectus excavatum, unilateral clinodactyly V, and a characteristic over-extension of the proximal joint with flexion of the distal joint of the fingers. His toes II–IV displayed a valgus deviation, and the spacing between the first and second toe was increased and a unilateral brain malformation 1 1 Emmelien Aten
00058669 - PubMed: Schwartz 2000 cousin of IT M - Italy - - - - - AAS;MRX16 Short stature, relative macrocephaly and a strikingly similar face with ocular hypertelorism, down- slanting palpebral fissures, ptosis of the upper eyelids, flat philtrum, bow shape of the upper lip and pointed chin. They also had brachydactyly, typical hyperextensibility of the proximal and incomplete extensibility of the distal interphalangeal joints, and transverse palmar crease. Also noted were umbilical hernia, dorsal groove of the penis. 1 1 Emmelien Aten
00058670 - PubMed: Schwartz 2000 cousin of FC M - Italy - - - - - AAS;MRX16 Short stature, relative macrocephaly and a strikingly similar face with ocular hypertelorism, down- slanting palpebral fissures, ptosis of the upper eyelids, flat philtrum, bow shape of the upper lip and pointed chin. They also had brachydactyly, typical hyperextensibility of the proximal and incomplete extensibility of the distal interphalangeal joints, and transverse palmar crease. Also noted were inguinal hernia, dorsal and shawl scrotum . 1 1 Emmelien Aten
00058671 - PubMed: Schwartz 2000 - M - Germany ? - - - - AAS;MRX16 Short stature, widow’s peak, hypertelorism, downslanting palpebral fissures, ptosis of the upper eyelids and a short nose with anteverted nares, brachydactyly and cutaneous syndactyly of both hands and a shawl scrotum. 1 1 Emmelien Aten
00058672 - PubMed: Shalev 2006 - M - - Arab - - - - AAS;MRX16 weight and height a just below the 3rd centile, round face, hypertelorism, ptosis of eyelids, and small nose with upturned nares. The philtrum was wide and the auricles were hypoplastic at their upper segment. He had pigeon chest. The fingers were short, with syndactyly of all fingers and camptodactyly of 3rd finger. A bilateral transverse line was present on both palms, and a single flexion crease was found on both 5th fingers. A shawl scrotum was present with otherwise normal genitalia. 1 1 Emmelien Aten
00058673 - PubMed: Bedoyan 2009 - M - - - - - - - AAS;MRX16 Ptosis and camptodactyly, his weight was less than 5th percentile, height was 1st percentile and head circumference was 25th percentile. Posteriorly rotated ears, bilateral ptosis, ocular hypertelorism, downslanting palpebral fissures, small upturned nose, high arched palate, bilateral camptodactyly involving 3rd, 4th, and 5th fingers and mild shawl scrotum with right inguinal hernia. 1 1 Emmelien Aten
00058674 - - - - - - - - - - - AAS;MRX16 - 1 1 Emmelien Aten
00058675 - - - - - - - - - - - AAS;MRX16 - 1 1 Emmelien Aten
00058676 - PubMed: Aten 2013 3-generation family, affected grandfather and 2 grandsons, unaffected heterozygous carrier daugther M no Netherlands - - - - - AAS;MRX16 Short stature, hypertelorism, brachydactyly, Shawl scrotum, Unguinal hernia, Joint laxity. 1 3 Johan den Dunnen
00183151 25644381-FamD176 PubMed: Hu 2016 family, 2 affected, 3 unaffected heterozygous carrier females M - - - - - - - MRX;IDX - 1 2 Johan den Dunnen
00311873 BAB8747/BH8811_1 PubMed: White 2018 patient - - - - - - - - RRS see paper; ... 1 1 Johan den Dunnen
00311874 BAB8751/BH9281_1 PubMed: White 2018 patient - - - - - - - - RRS see paper; ... 1 1 Johan den Dunnen
00324344 - - - M - - - - - - - ? Microcephaly (HP:0000252); Intellectual disability (HP:0001249); Muscular hypotonia (HP:0001252); Global developmental delay (HP:0001263); Failure to thrive (HP:0001508); Genu recurvatum (HP:0002816); Short stature (HP:0004322) 1 1 IMGAG
00390722 Pat5 PubMed: Gazdagh 2019 - M - United Kingdom (Great Britain) - - - - - NDD intrauterine growth retardation (-2.2 SD); short stature (-2.0 SD); developmental delay; myopia, hypermetropia, ptosis; thick eyebrows, prominent eyelashes, flat nasal bridge, short nose, broad nasal root and tip, anteverted nares, thick alae nasi, broad philtrum, high and broad forehead and slightly posteriorly rotated ears; mild 5th finger clinodactyly, small nails on his 2nd toes, mild joint laxity; feeding difficulties 1 1 Johan den Dunnen
00415908 203455 - - M ? Afghanistan - - - - - AAS;MRX16 Delayed speech and language development, Shawl scrotum 1 1 Andreas Laner
00426122 10DH11200 PubMed: Al-Kasbi 2022 patient, other affecteds in family M - Oman - - - - - ID - 1 1 Johan den Dunnen
00433379 248708 - - M no Germany - - - - - AAS;MRX16 clinical Aarskog-Scott syndrome, 1 1 Andreas Laner
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