Table S1– Detailed list of 98 X-linked syndromes with MR and multiple congenital anomalies (31 of these are mapped and 38 have a cloned gene). Entries are listed in alphabetical order but those that have an OMIM number are indicated first, followed by those that have appeared only in PubMed publications. All entries indicated in red are allelic to the most common or first described condition, i.e. due to mutations in the same gene (e.g. Martinez, Juberg-Marsidi, Chudley-Lowry are due to mutations in the ATRX/XNP gene, just like the alpha-thalassemia mental retardation syndrome). If a condition was not mapped by linkage analysis but through a cytogenetic abnormality (translocation, microdeletion, duplication), this fact has been indicated in the notes column.
OMIM/Ref. / Name / Locus / Gene / Notes / Description
1 / #305400 / Aarskog-Scott / Xp11.2 / FGD1 *300546 / short stature, hypertelorism, downslanting palpebral fissures, anteverted nostrils, shawl scrotum, joint hyperlaxity
*300546 / MRX / nonspecific MR
2 / %300262 / Abidi / Xq12-q21 / Short stature, small head, sloping forehead, hearing loss
3 / %300218 / Ahmad /MRXS7 / Xp11.3-q22 / Obesity, hypogonadism, tapered fingers
4 / %304050 / Aicardi / Xp22 / dominant, lethal in males; t(X;3) in two cases / Abnormal facies (prominent premaxilla, upturned nasal tip, sparse lateral eyebrows), agenesis of corpus callosum, chorioretinopathy, microphthalmia, seizures
5 / 304200 / Akesson / Cutis verticis gyrata, thyroid aplasia
6 / %300261 / Armfield / Xq28 / Macrocephaly, glaucoma, cleft palate, seizures, short stature, small hands and feet
7 / 300431 / Atkin-Flaitz / Macrocephaly, “coarse” face, short stature, obesity, macroorchidism
8 / #301040 / ATR-X / Xq13.3 / ATRX (XNP) *300032 / Microcephaly, “coarse” face, genital and skeletal anomalies, -thalassemia and HbH inclusions in some
#301040 / Martinez / Spastic diplegia, microcephaly and short stature
#309580 / Juberg-Marsidi / Short stature, deafness, flat nasal bridge, ocular abnormalities, rudimentary scrotum with cryptorchidism
#309580 / Chudley-Lowry / Short stature, obesity, small genitalia
#309580 / Smith-Fineman-Myers / Short stature, peculiar face, microcephaly, seizures
#309580 / Carpenter-Waziri / Short stature, prominent lips, bushy eyebrows, depressed nasal bridge with wide nose tip, spaced teeth, brachydactyly
#309580 / Holmes-Gang / Microcephaly, epicanthal folds, short nose with anteverted nostrils, short upper lip, equinovarus deformity
[1,2] / MRX / nonspecific MR
9 / #301900 / Borjeson-Forssman-Lehmann / Xq26.2 / PHF6 *300414 / Obesity, hypogonadism, round face, narrow palpebral fissures, epilepsy
10 / 301950 / Branchial arch / Short stature, downslanting eyelids, low set ears, webbed neck, highly arched palate
11 / %300612 / Brooks-Wisniewski-Brown / Peculiar face, growth retardation, optic atrophy, spastic diplegia, atrophic hydrocephalus
12 / #300354 / Cabezas / Xq24 / CUL4B *300304 / Short stature, prominent lower lip, obesity, hypogonadism, muscle wasting, tremor
#300639 / Wei / MR X-linked hypotonic facies 2 / Short stature, large mouth with prominent lips, short thumbs, restlessness, seizures
13 / *300524 / Cantagrel / Xq13.2 / KIAA2022 *300524 / inv(X)(p22.3q13.2), familial / Short stature, microcephaly, short philtrum, short nose with thick tip, profound MR, spastic tetraparesis
14 / 308830 / Cantu' / Macrocephaly, dwarfism, keratosis follicularis
15 / %309620 / Christian / Xq27-q28 / Skeletal dysplasia (short stature, ridging of the metopic suture, fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia, and short middle phalanges), abducens (VI) nerve palsy
16 / *300243 / Christianson / Xq26.3 / SLC9A6
*300231 / Angelman-like phenotype, profound MR, mutism despite normal hearing, craniofacial dysmorphism, grand-mal epilepsy, ophthalmoplegia, cerebellar atrophy
17 / #303600 / Coffin-Lowry / Xp22.1 / RSK2 (RPS6KA3) *300075 / “Coarse” face, drumstick phalanges, skeletal anomalies
[3] / MRX / nonspecific MR (MRX19)
18 / #300590 / Cornelia de Lange, X-linked / Xp11.22 / SMC1A / SMC1L1 *300040 / Facial dysmorphism (less typical), growth deficits with feeding problems, small hands, epilepsy, enlarged ventricles
19 / #305000 / Dyskeratosis congenita / Xq28 / DKC1 *300126 / Reticulate skin pigmentation, nail dystrophy, mucosal leukoplakia, progressive bone marrow failure
#300240 / Hoyeraal-Hreidarsson / Growth retardation, microcephaly, cerebellar hypoplasia, aplastic anemia & immunodeficiency
20 / %305450 / FG (FGS1) / Xq13.1 / MED12 *300188 / Macrocephaly, agenesis of corpus callosum, gastrointestinal anomalies, deafness
%309520 / Lujan / Marfanoid habitus, triangular face, narrow palate, hypernasal voice
21 / %300321 / FGS2 / Xq28 / (FLNA
+300017) ?
see ref. [4] / inv(X)(q12q28), familial / Prominent forehead, hypotonia, failure to thrive, constipation, and anteriorly placed anus
22 / %300406 / FGS3 / Xp22
23 / %300422 / FGS4 / Xp11.3- Xp11.4 / (CASK
*300172) ?
see ref. [5]
24 / %300581 / FGS5 / Xq22.3 / duplication that includesPRPS1
25 / #300676 / (FGS6) MRXS14 / Xq24 / UPF3B *300298 / either FG phenotype or Lujan phenotype (marfanoid habitus)
%309520 / Lujan / marfanoid habitus
[6] / MRX / nonspecific MR
26 / #300659 / (FGS7)
Macrocephaly XLMR / Xq21.1 / BRWD3 *300553 / Macrocephaly, large prominent ears, pointed chin
27 / #300624 / Fragile X / Xq27.3 / FMR1 *309550 / triplet expansion (>200 CGG) / Macrocephaly, long face, long ears, macroorchidism
#300623 / Fragile X-associated Tremor Ataxia Syndrome / triplet expansion (50-200 CGG) / Late-onset tremor, gait unsteadiness, dementia, brain atrophy
28 / %305600
[7,8] / Goltz / Focal Dermal hypoplasia / Xp11.23 / PORCN *300651 / dominant, lethal in males / Focal dermal hypoplasia, short missing digits, polysyndactyly, microphthalmia
29 / #300472 / Graham / (IGBP1 *300139) ? / 2 brothers
with a promoter variant? / Short stature, agenesis of corpus callosum, coloboma of the iris and retina, low set ears, sensorineural deafness, micrognatia, high forehead, pectus excavatum and scoliosis in 2 brothers (+choanal atresia & PDA/VSD in one)
30 / %302000 / Hereditary bullous dysfunction / Xq27.3-q28 / Short stature, microcephaly, alopecia, bullous dystrophy, hypogenitalism, early lethality
31 / 300064 / Hyde-Forster / 2 brothers / Craniofacial anomalies with plagiocephaly, flattened occiput
32 / 307010 / Hydrocephalus with cerebellar agenesis / Hydrocephalus, cerebellar agenesis, absence of Magendie and Luschka’s foramina
33 / #307030 / Hyper-
glycerolemia / Xp21.2 / GK *300474 / Enzyme deficiency / Glyceroluria, poor growth, esotropia, osteoporosis
34 / %307700 / Hypopara-thyroidism,
X-linked / Xq26-q27 / neonatal tetany, parathyroid agenesis, seizures - survivors may have cataracts, short stature and mental retardation
35 / +309900 / Hunter disease / Xq28 / IDS +309900 / Enzyme deficiency / “Coarse” face, dysostosis multiplex, dwarfism, hepatosplenomegaly, heart involvement
36 / #308300 / Incontinentia pigmenti / IP2 / Xq28 / IKBKG / NEMO *300248 / dominant, lethal in males / Incontinentia pigmenti, incomplete dentition, retinal abnormalities
37 / #300534 / JARID1C-related XLMR / Xp11.22 / JARID1C / SMCX *314690 / Short stature, slowly progressive spastic paraplegia, maxillary hypoplasia, facial hypotonia and dysmorphism
38 / *300471 / Jones / Cubitus valgus, mild microcephaly, short philtrum, deep-set eyes, downslanting palpebral fissures, multiple nevi, seizures
39 / *300319
[9,10] / Jun / Xq22.1 / NXF5 *300319 / inv(X)(p21.1q22.1) + missense / short stature, downslanted palpebral fissures, large everted ears
40 / #309000 / Lowe OculoCerebroRenal / Xq25 / OCRL1 *300535 / Enzyme deficiency / Hydrophthalmia, cataract, vitamin D-resistant rickets
41 / +300646 / Marfanoid / Xq25-q26.1 / ZDHHC9 +300646 / Hypotonia, marfanoid habitus, pronounced language handicap
42 / %300519 / Martin-Probst / (Xq11-q21) / ATR-X excluded / Telecanthus, hypertelorism, broad mouth, low set ears, mild-severe MR, microcephaly, short stature, pancytopenia
43 / %309800 / MCOPS1 / Lenz / Xq27-q28 / Microphthalmia, thumb and skeletal anomalies, urogenital and cardiovascular anomalies
44 / #300166 / MCOPS2 / ANOP2 / OculoFacio
CardioDental / Xp11.4 / BCOR *300485 / Microphthalmia, cataracts, radiculomegaly and septal heart defects
45 / %301590 / MCOPS4 / ANOP1 / (Xq27-q28) / Overlaps MCOPS1/Lenz %309800 / Anophthalmos, ankyloblepharon, orbital underdevelopment
46 / #309801 / MCOPS7 / MIDAS / Xp22.2 / HCCS *300056 / dominant, lethal in males / Microphthalmia, dermal aplasia, sclerocornea
47 / %300148 / MEHMO / Xp22.13-p21.1 / Epilepsy, hypogonadism and hypogenitalism, microcephaly, obesity
48 / #309400 / Menkes / Xq21.1 / ATP7A *300011 / Enzyme deficiency / Growth retardation, peculiar hair, focal cerebral & cerebellar degeneration
#304150 / Occipital horn syndrome /
Cutis laxa, X-linked / occipital bone exostoses, long face and philtrum, arched palate, long neck, narrow chest and shoulders, bladder diverticula
49 / %309605 / Miles-Carpenter /MRXS4 / Xp11.2-q23 / Microcephalus, asymmetric face, hypogonadism, joint hypermobility, 10 digital arches
50 / #300123 / MRGH / Xq27.1 / SOX3 *313430 / 11 ala in-frame insertion / Isolated GH deficiency, short stature, small sella turcica
%312000 / Panhypo-pituitarism / SOX3 duplication *313430 / Duplication (SOX3) and 7 ala in-frame insertion / Combined deficiency of pituitary hormones
51 / #302350 / Nance-Horan / Xp22.13 / NHS *300457 / Cataract, microcornea, cone-shaped incisors, supernumerary teeth
52 / *312180 / Nascimento / Xq24 / UBE2A *312180 / generalized hirsutism, synophris, upslanted palpebral fissures, large mouth, short stature, obesity, severe speech impairment, seizures
53 / #300000 / Opitz G/BBB / Xp22.2 / MID1 *300552 / Hypertelorism, midline abnormalities, heart defects, hypospadias
54 / #311200 / Oro-Facio-Digital 1 / Xp22.2 / OFD1 *300170 / dominant, lethal in males / Midline clefting of face, tongue nodules, syndactyly
#300209 / Simpson-Golabi-Behmel, type 2 / early demise, macrocephaly, hypertelorism, short broad nose, large mouth, prominent philtrum, cleft palate, redundant skin, hypoplastic nails, broad thumbs, short fingers, gastrointestinal and genitourinary anomalies (including polycystic kidneys).
55 / #311300 / Oto-Palato-Digital 1 / Xq28 / FLNA *300017 / Short stature, hearing loss, cleft palate, characteristic face, broad thumbs & halluces, syndactyly
#304120 / Oto-Palato-Digital 2 / lethal skeletal dysplasia, cleft palate, microcephaly, downward-slanting palpebral fissures, small thorax, and bowed limbs with absent fibulae
#305620 / Frontometaphyseal dysplasia / marked frontal hyperostosis, underdeveloped mandible, cryptorchidism, subluxated radial heads and metaphyseal dysplasia
#309350 / Melnick-Needles syndrome / Prominent supraorbital ridge, cleft palate, micrognathia, malaligned teeth
#300049 / Bilateral Periventricular Nodular Heterotopia / dominant, lethal in males / Epilepsy, periventricular nodular heterotopia, mild hypoplasia of corpus callosum and/or cerebellum in females; syndactyly and severe MR in few sporadic affected males
#300048 / Chronic idiopathic intestinal pseudoobstruction / Chronic idiopathic intestinal pseudoobstruction (CIIP), seizures
56 / 311450 / Pallister W syndrome / Characteristic face, clefting, subluxed elbow, camptodactily
57 / %304340 / Pettigrew /MRXS5 / Xq26-q27.1 / Dandy-Walker anomaly, ataxia, seizures, iron accumulation in basal ganglia, spasticity, hydrocephalus, hypotonia, long “coarse” face
58 / %309610 / Prieto /MRXS2 / Xp21.1-p11.3 / Peculiar face, dental anomalies, sacral dimple, joint dysplasia, epilepsy
59 / 300404 / Reish / 2 maternal half brothers / Brain anomalies, growth retardation, ectodermal dysplasia, skeletal malformations, Hirschsprung disease, ear deformity and deafness, eye hypoplasia, cleft palate, cryptorchidism, and kidney dysplasia/hypoplasia
60 / #309500 / Renpenning /MRXS8 / Xp11.23 / PQBP1 +300463 / Microcephaly, short stature
#309500 / Sutherland-Haan /MRXS3 / Microcephaly, short stature, small testes, spastic diplegia
#309500 / Hamel / Congenital heart defect, cleft palate, short stature, facial anomalies (anal atresia, iris coloboma, situs inversus)
+300463 / Golabi-Ito-Hall / Short stature, triangular face, epicanthic folds, microcephaly, brittle hair
[11] / Porteous / Short stature, high-pitched voice, high forehead, receding hairline
#309500 / Fichera / Microcephaly, prognathism, malocclusion, spastic diplegia, cerebellar vermis hypoplasia (?), skewed X-inactivation in females
#309500 / MRX / nonspecific MRX (MRX55)
61 / 300258 / Roifman / spondyloepiphyseal dysplasia, growth retardation, immune deficiency, retinal dystrophy
62 / 308200 / Rud / Ichthyosis, epilepsy, nystagmus, hypogonadism
63 / 314320 / Say-Meyer / Trigonocephaly, short stature
64 / 312840 / Schimke / Early onset choreoathetosis with later spasticity, postnatal microcephaly and growth failure, external ophthalmoplegia, variable deafness
65 / %300238 / Shashi
/MRXS11 / Xq26-q27 / Coarse facial features, puffy eyelids, obesity, large ears and large testes
66 / #300263 / Siderius-Hamel / Xp11.22 / PHF8 *300560 / Cleft lip and palate, broad nasal tip, large hands
67 / #312870 / Simpson-Golabi-Behmel / Xq26.2 / GPC3 *300037 / Macrosomia, “coarse” face, polydactyly, extra nipples, heart defects
68 / #309583 / Snyder-Robinson / Xp22.11 / SMS *300105 / Macrocephaly, long thin face, high narrow/cleft palate, asthenic body build, scoliosis
69 / 300232 / Spondyloepi-metaphyseal dysplasia / short stature, brachydactyly, seizures, small corpus callosum
70 / #300434 / Stocco dos Santos / Xp11.22 (p11.3-q21.1) / KIAA1202 / SHROOM4 *300579 / Short stature, bilateral hip luxation, hypertelorism, seizures, cortical atrophy
71 / 309480 / Tranebjaerg I / Epilepsy, psoriasis
72 / #300630 / Turner / Xp22.2 / AP1S2 *300629 / Severe hypotonia, short stature, high forehead, prominent ears, small pointed chin
[12,13] / Fried / Hydrocephalus, spastic diplegia, calcification of basal ganglia
#300630 / MRX / nonspecific MR (MRX59)
73 / #314390 / VACTERL with hydrocephalus / Xp22.2 / FANCB *300515 / Vertebral, anal, tracheo-esophageal, renal and radial defects, hydrocephalus
74 / %314500 / Van den Bosch / Choroideremia, acrokeratosis verruciformis, anhydrosis, skeletal deformities
75 / *300360 / Vitale / Xq24 / Short stature, brachydactyly, narrow downslanted palpebral fissures, large bulbous nose, macrostomia
76 / %309545 / Wilson /MRXS12 / (Xp11-Xq27) / Aphasia, growth failure, brachycephaly, large mouth with thick lips, seizures, frequent infections
77 / %309585 / Wilson-Turner /MRXS6 / Xp21.1-q22 / may include Vasquez (97)? / Obesity, gynecomastia, tapering fingers, emotional lability
78 / %300421 / Wittwer / (Xp22) / Square face, high broad forehead, frontal bossing, hypertelorism, downslanting palpebral fissures, anteverted nares
79 / [14] / Carpenter / Xq23-q24 / Congenital hip dislocation, microcephaly, hypertelorism and dysmorphic facial features, short neck and sternum
80 / [15] / Cerebral-cerebellar-coloboma syndrome / dominant, lethal in males / early demise, dysmorphisms, hypotonia, retinal colobomas, hydrocephalus, cerebellar vermis hypoplasia, seizures (X-linked Joubert syndrome ?)
81 / [16] / Chassaing / dominant, lethal in males / lethal chondrodysplasia, platyspondily, brachydactily, hydrocephaly and microphthalmia; female carriers with mild MR and short stature
82 / [17] / Chudley / Xq21.2-q23 / Prognathism, synophrys, hirsutism, seizures, abnormal gait and weakness, hypogammaglobulinemia
83 / [18] / Cilliers / Xq25-q26 / hypergonadotrophic hypogonadism, small testes, short stature, microcephaly
84 / [19] / Hall / Cleft lip/palate, facial dysmorphism, inguinal hernia, digital defects
85 / [20] / Hockey / Precocious puberty, progressive IQ deterioration (mild to moderate)
86 / [21] / Homfray / Coarse facial features, epilepsy, progressive joint contractures
87 / [22] / Johnson / Xq12-q21 / Macrocephaly, macroorchidism, midface hypoplasia, triangular face
88 / [23] / Oosterwijk / (Xp11.4-q24) / A/synphalangism of hands and feet, hearing loss, verrucosis and hypertrichosis, immunodeficiency
89 / [24] / Seemanova / Microcephaly, microphthalmia, congenital cataract, peculiar face, microgenitalism
90 / [25,26] / Shrimpton
/MRXS9 / Xq12-q21.31 / Microcephaly, variably short stature
91 / [27] / Stevenson / Xq12-q21.2 / Hypotonia, areflexia, tapered fingers, arches increased, genu valgum
92 / [28] / Stevenson / dominant, lethal in males / microcephaly, short stature, hypotelorism, small ears, short philtrum, small mandible, small hands and feet, and mild cognitive impairment
93 / [29] / Stoll / Short stature, prominent forehead, hypertelorism, broad nasal tip, anteverted nares
94 / [30] / Tariverdian / Acromegaly, CNS anomalies, macroorchidism
95 / [31,32] / Turner / Xp11.22 / HUWE1 / missense mutation / Macrocephaly and heterozygote expression, previously linked to Xp21.2-q13
[32] / MRX / either missense or duplication / nonspecific MR (including MRX17 and MRX31: in both cases there was a microduplication involving the HUWE1 and the HADH2 genes)
96 / [33] / van Esch / Xp22.1-p21.3 / not ARX or IL1RAPL1 / Short stature, microcephaly, hypogonadism
97 / [34] / Vasquez / may be BFLS? See %309585 / Hypogonadism, gynecomastia, short stature, obesity
98 / [35] / Young-Hughes / Short stature, obesity, hypogonadism
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