Syndromes - Table 1 (updated 2 september 2005)
MIM No. [Ref.]	Name	Locus	Gene	Description
+305400	Aarskog-Scott	Xp11.2	FGD1	Hypertelorism, short stature, downslanting palpebral fissures, anteverted nostrils, shawl scrotum, joint hyperlaxity
+305400	MRX		FGD1	Lebel et al. Clin Genet 2002 61:139-145.
%300262	Abidi	Xq12-q21		Short stature, small head, sloping forehead, hearing loss
*304100	Agenesis of Corpus Callosum, partial			Microcephaly, dys/agenesis of corpus callosum, hydrocephalus, spasticity, short broad hands, facial anomalies
%300218	Ahmad /MRXS7	Xp11.3-q22		Obesity, hypogonadism, tapered fingers
304200	Akesson			Cutis verticis gyrata, thyroid aplasia
%301590	ANOP1/Graham	(Xq27-q28)		Anophthalmos, ankyloblepharon, orbital underdevelopment (same as Lenz ? %309800)
%300261	Armfield	Xq28	XAP5 ? Frascati 2001 Nelson.. Schwartz	Macrocephaly, glaucoma, cleft palate, seizures, short stature, small hands and feet
300431	Atkin-Flaitz			Macrocephaly, “coarse” face, short stature, obesity, macroorchidism (includes Clark-Baraitser)
#301040	ATR-X	Xq13.3	ATRX (XNP) *300032	Microcephaly, “coarse” face, genital and skeletal anomalies, a-thalassemia and HbH inclusions in some
#309580	Juberg-Marsidi		ATRX (XNP) *300032	Short stature, deafness, flat nasal bridge, ocular abnormalities, rudimentary scrotum with cryptorchidism
#309580	Chudley-Lowry		ATRX (XNP) *300032	Short stature, obesity, small genitalia
#309580	Smith-Fineman-Myers		ATRX (XNP) *300032	Short stature, peculiar face, microcephaly, seizures
#309580	Carpenter-Waziri		ATRX (XNP) *300032	Short stature, prominent lips, bushy eyebrows, depressed nasal bridge with wide nose tip, spaced teeth, brachydactyly
#309580	Holmes-Gang		ATRX (XNP) *300032	Microcephaly, epicanthal folds, short nose with anteverted nostrils, short upper lip, equinovarus deformity
#301040	Martinez		ATRX (XNP) *300032	Spastic diplegia, microcephaly and short stature
Yntema et al. 2002 Am J Med Genet 110: 243-247.	MRX		ATRX (XNP) *300032
#300215	Berry-Kravis (XLAG)	Xp22.1	ARX *300382	Lissencephaly with frontal pachygiria and posterior agyria, intermediate increase in cortical thickness, agenesis of corpus callosum, neonatal intractable epilepsy and severe hypotonia, hypothalamic dysfunction with frequent hypothermia, ambiguous genitalia
#301900	Borjeson-Forssman-Lehmann	Xq26.2	PHF6 *300414	Obesity, hypogonadism, round face, narrow palpebral fissures, epilepsy
301950	Branchial arch			Short stature, downslanting eyes, lowset ears, webbed neck, highly arched palate
*300524	Cantagrel	Xq13.2	KIAA2022 *300524	Short stature, microcephaly, short philtrum, short nose with thick tip, profound MR, spastic tetraparesis
308830	Cantu'			Macrocephaly, dwarfism, keratosis follicularis
%309620	Christian	Xq27-q28		Skeletal dysplasia, VI nerve palsy
*300243	Christianson	Xq23-q27.3		Profound MR, mutism despite normal hearing, craniofacial dysmorphism, grand-mal epilepsy, ophthalmoplegia, cerebellar atrophy
#303600	Coffin-Lowry	Xp22.1	RSK2 *300075	“Coarse” face, drumstick phalanges, skeletal anomalies
Merienne et al. Nature Genet 1999; 22:13-14.	MRX		RSK2 *300075	MRX19 (Table 5)
#305000	Dyskeratosis congenita	Xq28	DKC1 *300126	Reticulate skin pigmentation, nail dystrophy, mucosal leukoplakia, progressive bone marrow failure
#300240	Hoyeraal-Hreidarsson syndr.		DKC1 *300126	Growth retardation, microcephaly, cerebellar hypoplasia, aplastic anemia & immunodeficiency
%305450	FGS1	Xq12-q21.3	IGBP1 *300139 /alpha 4 as Graham ???	Macrocephaly, agenesis of corpus callosum, gastrointestinal anomalies, deafness
%300321	FGS2	Xq28
%300406	FGS3	Xp22
%300422	FGS4	Xp11.3-4
+309550	Fragile X	Xq27.3	FMR1	Macrocephaly, long face, long ears, macroorchidism
#300472	Graham	(Xq13)	IGBP1 *300139 /alpha 4 ??? -57/-55 promoter variants	Agenesis of corpus callosum, iris coloboma, sensorineural deafness, micrognatia, high forehead in 2 brothers (+choanal atresia & PDA/VSD in one)
%302000	Hereditary bullous dysfunction	Xq27.3-q28		Short stature, microcephaly, alopecia, bullous dystrophy, hypogenitalism
300064	Hyde-Forster			Craniofacial anomalies with plagiocephaly, flattened occiput
307010	Hydrocephalus with cerebellar agenesis			Hydrocephalus, cerebellar agenesis, absence of Magendie and Luschka’s foramina
#300534	JARID1C-related XLMR	Xp11.22 [Xp2	JARID1C / SMCX *314690	Short stature, slowly progressive spastic paraplegia, maxillary hypoplasia, facial hypotonia and dysmorphism
Claes et al. AJMG 2000 94:1-4.	Claes (L017)		JARID1C / SMCX *314690
*300471	Jones			Cubitus valgus, microcephaly, seizures, peculiar face
%309800	Lenz / MAA	Xq27-q28		Microphthalmia, thumb and skeletal anomalies, urogenital and cardiovascular anomalies
#300412	Lenz / MAA2	Xp11.4	BCOR *300485	MAA2 / Oculo Facio Cardio Dental spectrum #300166
#300166	OculoFacioCardioDental	Xp11.4	BCOR *300485
%300260	Lubs	Xq28		Hypertelorism, short nose, seizures, hearing loss, early demise, cardiomegaly at autopsy
*309520	Lujan-Fryns			Marfanoid habitus, triangular face, narrow palate, hypernasal voice
%300148	MEHMO	Xp22.13-p21.1		Epilepsy, hypogonadism and hypogenitalism, microcephaly, obesity
%309605	Miles /MRXS4	Xp11.2-q23		Microcephalus, asymmetric face, hypogonadism, joint hypermobility, 10 digital arches
#302350	Nance-Horan	Xp22.13	NHS *300457	Cataract, microcornea, cone-shaped incisors, supernumerary teeth
*300319	NXF5-related XLMR	Xq22.1	NXF5 *300319	one male carrier of inv(X)(p21.1;q22.1) with short stature, downslanted palpebral fissures, large everted ears
+300000	Opitz G/BBB	Xp22.2	MID1	Hypertelorism, midline abnormalities, heart defects, hypospadias
#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		FLNA *300017	lethal skeletal dysplasia, cleft palate, microcephaly, downward-slanting palpebral fissures, small thorax, and bowed limbs with absent fibulae
#305620	Frontometaphyseal dysplasia		FLNA *300017	marked frontal hyperostosis, underdeveloped mandible, cryptorchidism, subluxated radial heads and metaphyseal dysplasia
#309350	Melnick-Needles syndrome		FLNA *300017	Prominent supraorbital ridge, cleft palate, micrognathia, malaligned teeth
#300049	BPNH	Xq28	FLNA *300017	see Table 4
%304340	Pettigrew /MRXS5	Xq26-q27.1		Dandy-Walker anomaly, ataxia, seizures, iron accumulation in basal ganglia, spasticity, hydrocephalus, hypotonia, long “coarse” face
300055	PPM-X	Xq28	MECP2	Psychosis, pyramidal signs, macroorchidism
%309610	Prieto /MRXS2	Xp21.1-p11.3		Peculiar face, dental anomalies, sacral dimple, joint dysplasia, epilepsy
300004	Proud	Xp ??	ARX *300382	Microcephaly, agenesis of corpus callosum, arthrogryposis, renal dysplasia, hypospadias
300404	Reish			Multiple congenital anomalies, growth retardation, ectodermal dysplasia
#309500	Renpenning /MRXS8	Xp11.23	PQBP1 *300463	Microcephaly, short stature
#309500	Sutherland /MRXS3	Xp11.23	PQBP1 *300463	Microcephaly, short stature, small testes, spastic diplegia
Am J Med Genet (1994) 51:591-597.	Hamel		PQBP1 *300463	Congenital heart defect, cleft palate, short stature, facial anomalies (anal atresia, iris coloboma, situs inversus)
Am J Med G	Golabi-Ito-Hall		PQBP1 *300463	Short stature, triangular face, epicanthic folds, microcephaly, brittle hair
Am J Hum G	Porteous	Xp11.4-q13	PQBP1 *300463	Short stature, high-pitched voice, high forehead, receding hairline
J Med Genet	Fichera	Xp11.4-q12	PQBP1 *300463	Microcephaly, prognathism, malocclusion, spastic diplegia, cerebellar vermis hypoplasia (?), skewed X-inactivation in females
	MRX		PQBP1 *300463	MRX55 (Table 5)
308200	Rud			Ichthyosis, epilepsy, nystagmus, hypogonadism
314320	Say-Meyer			Trigonocephaly, short stature
312840	Schimke			Early onset choreoathetosis with later spasticity, microcephaly, growth failure, external ophthalmoplegia, variable deafness
%300238	Shashi/MRXS11	Xq26-q27		Coarse facial features, puffy eyelids, obesity, large ears and testes
%300263	Siderius-Hamel	Xp11.22	PHF8	Cleft lip and palate, broad nasal tip, large hands
#312870	Simpson-Golabi-Behmel	Xq26.2	GPC3 *300037	Macrosomia, “coarse” face, polydactyly, extra nipples, heart defects
*300209	Simpson-Golabi-Behmel, type 2	Xp22		early lethal SGB, multiple congenital anomalies, hydrops fetalis
#309583	Snyder-Robinson	Xp22.11	SMS *300105	Macrocephaly, long thin face, high narrow/cleft palate, asthenic body build, scoliosis
300232	Spondyloepimetaphyseal dysplasia			short stature, brachydactyly, seizures, small corpus callosum
%300434	Stocco dos Santos	Xp11.22 (p11.3-q21.1)	KIAA1202	Short stature, bilateral hip luxation, hypertelorism, seizures, cortical atrophy
309480	Tranebjaerg I			Epilepsy, psoriasis
*314390	VACTERL with hydrocephalus	(Xq26.2)	(ZIC3) Purandare et al. 1999 AJHG 65:A70	Vertebral, anal, tracheo-esophageal, renal and radial defects, hydrocephalus
*314500	Van den Bosch			Choroideremia, acrokeratosis verruciformis, anhydrosis, skeletal deformities
*300360	Vitale	Xq24		Short stature, brachydactyly, narrow downslanted palpebral fissures, large bulbous nose, macrostomia
311450	W syndrome			Characteristic face, clefting, subluxed elbow, camptodactily
308400	Warkany			Intrauterine growth retardation, microcephaly
%309545	Wilson	(Xp11-Xq27)		Aphasia, growth failure, brachycephaly, large mouth with thick lips, seizures, frequent infections (same phenotype as MRX27 ?)
%309585	Wilson /MRXS6	Xp21.1-q22		Obesity, gynecomastia, tapering fingers, emotional lability
*300421	Wittwer	(Xp22)		Square face, high broad forehead, frontal bossing, hypertelorism, downslanting palpebral fissures, anteverted nares
Am J Hum Genet (2000) 67(4) Suppl.2:315.	Carpenter	Xq23-q24		Congenital hip dislocation, microcephaly, hypertelorism and dysmorphic facial features, short neck and sternum
Am J Med Genet (1999) 85:255-262.	Chudley	Xq21.2-q23		Prognathism, synophrys, hirsutism, seizures, abnormal gait and weakness
AJHG (1999) 65:A151	Hall			Cleft lip/palate, facial dysmorphism, inguinal hernia, digital defects
Am J Med Genet (1986) 23:127-37.	Hockey			Precocious puberty, progressive IQ deterioration (mild to moderate)
Clin Dysmorphol (1995) 4:289-93.	Homfray			Coarse facial features, epilepsy, progressive joint contractures
J Med Genet (1998) 35:1026-30.	Johnson	Xq12-q21		Macrocephaly, macroorchidism, midface hypoplasia, triangular face
J Med Genet (2000) 37:836-841	Martin	(Xq11-q21)	not ATR-X ??	Telecanthus, hypertelorism, broad mouth, low set ears, mild-severe MR, microcephaly, short stature, pancytopenia
AJHG (1999) 65:A337	Oosterwijk	(Xp11.4-q24) haplotype		A/synphalangism of hands and feet, hearing loss, verrucosis and hypertrichosis, immunodeficiency
J Med Genet (1997) 34:529-534.	Pai (MRX64)	Xq28 (DXS1113-qter)		Epicanthus, high nasal bridge, small mouth, seizures, early demise
Am J Med Genet (1996) 66:179-183.	Seemanova			Microcephaly, microphthalmia, growth retardation
Am J Med Genet (1999) 84:293-9.	Shrimpton/MRXS9	Xq12-q21.31		Microcephaly, variably short stature
Am J Med Genet (1994) 51:586-590.	Sklower-Brooks			Peculiar face, growth retardation, optic atrophy, spastic diplegia, atrophic hydrocephalus
J Med Genet (1997) 34:465-469.	Stevenson	Xq12-q21.2		Hypotonia, areflexia, tapered fingers, arches increased, genu valgum
Am J Med Genet (1991) 39:474-478.	Stoll			Short stature, prominent forehead, hypertelorism, broad nasal tip, anteverted nares
Am J Med Genet (1991) 38: 208-211.	Tariverdian			Acromegaly, CNS anomalies, macroorchidism
Am J Med Genet (1994) 51:575-80.	Turner	Xp21.2-q13		Macrocephaly, heterozygote expression
Am J Med Genet (2003) 117A:245-250.	Turner	Xp22		Severe hypotonia, short stature, high forehead, prominent ears, small pointed chin
Eur J Med Genet (2005) 48:145-152.	van Esch	Xp22.1-p21.3	not ARX or IL1RAPL1	Short stature, microcephaly, hypogonadism
J Pediatr (1979) 94:56-60.	Vasquez			Hypogonadism, gynecomastia, short stature, obesity
Genet Counsel (1990) 1:97-102.	Vles		BPNH ? Neurology (1998) 51:499-503 ?	Corpus callosum agenesis, spastic quadriparesis, irregular lining of lateral ventricles
J Ment Defic Res (1982) 26:153-162.	Young-Hughes			Short stature, obesity, hypogonadism