Craniosynostosis (Version 1.68)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 101 Entitiess
Green Green List (high evidence)	ACTB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Baraitser-Winter syndrome 1, MIM# 243310 Tags
Green Green List (high evidence)	ACTG1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Baraitser-Winter syndrome 2, MIM# 614583 Tags
Green Green List (high evidence)	ADAMTSL4	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Ectopia lentis et pupillae MIM#225200 Craniosynostosis with ectopia lentis MONDO#0011347, ADAMTSL4-related Tags
Green Green List (high evidence)	AHDC1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Xia-Gibbs syndrome, MIM# 615829 Tags
Green Green List (high evidence)	ALPL	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes 241500 HYPOPHOSPHATASIA, INFANTILE Tags treatable
Green Green List (high evidence)	ALX4	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Frontonasal dysplasia 2 MIM#613451 Parietal foramina 2 MIM#609597 Tags
Green Green List (high evidence)	ARID1B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Coffin-Siris syndrome 1, MIM# 135900 Tags
Green Green List (high evidence)	ARSB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Mucopolysaccharidosis VI (MPS6, MIM# 253200 Tags
Green Green List (high evidence)	ASXL1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Bohring-Opitz syndrome,MIM# 605039 Tags
Green Green List (high evidence)	B3GAT3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, MIM#245600 Tags
Green Green List (high evidence)	BCL11B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Craniosynostosis, MONDO:0015469, BCL11B-related Tags
Green Green List (high evidence)	BRAF	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes CFC Tags
Green Green List (high evidence)	CDC45	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Meier-Gorlin syndrome 7 MIM#617063 Tags
Green Green List (high evidence)	CDK13	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, MIM# 617360 Tags
Green Green List (high evidence)	CHD7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes CHARGE syndrome, MIM#214800 bi-coronal craniosynostosis, MONDO:0015469, CHD7-associated Tags
Green Green List (high evidence)	COLEC11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes 265050 3MC SYNDROME 2 Tags
Green Green List (high evidence)	CTSK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Pycnodysostosis, MIM#265800 Tags
Green Green List (high evidence)	CYP26B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, MIM# 614416 Tags
Green Green List (high evidence)	EFNB1	1 review 1 green	Other	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Craniofrontonasal dysplasia, MIM# 304110 Tags
Green Green List (high evidence)	ERF	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Craniosynostosis 4, MIM# 600775 Tags
Green Green List (high evidence)	FAM20C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Raine syndrome, MIM# 259775 Tags
Green Green List (high evidence)	FBN1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Shprintzen-Goldberg syndrome Marfan syndrome MIM#154700 Tags
Green Green List (high evidence)	FBXO11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes intellectual developmental disorder with dysmorphic facies and behavioral abnormalities, MIM# 618089 Tags
Green Green List (high evidence)	FGF9	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Multiple synostoses syndrome 3 MIM#612961 Tags
Green Green List (high evidence)	FGFR1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pfeiffer syndrome, MIM# 101600 Jackson-Weiss syndrome 123150 Tags
Green Green List (high evidence)	FGFR2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Apert syndrome, MIM# 101200 Crouzon syndrome, MIM# 123500 Pfeiffer syndrome, MIM# 101600 Saethre-Chotzen syndrome, MIM# 101400 Tags
Green Green List (high evidence)	FGFR3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Crouzon syndrome with acanthosis nigricans, MIM# 612247 Muenke syndrome, MIM# 602849 Tags
Green Green List (high evidence)	FLNA	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Literature Phenotypes otopalatodigital spectrum Tags
Green Green List (high evidence)	GLI3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Metopic craniosynostosis Greig cephalopolysyndactyly syndrome MIM#175700 Tags
Green Green List (high evidence)	GNB1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Intellectual developmental disorder, autosomal dominant 42, MIM# 616973 Tags
Green Green List (high evidence)	GNPTAB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Mucolipidosis II alpha/beta(I cell disease), MIM# 252500 Tags
Green Green List (high evidence)	HNRNPK	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Au-Kline syndrome, MIM#616580 Tags
Green Green List (high evidence)	HUWE1	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked syndromic, Turner type MIM#309590 Tags
Green Green List (high evidence)	IDS	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Phenotypes Mucopolysaccharidosis II (MPS2, Hunter syndrome) 309900 Tags treatable
Green Green List (high evidence)	IDUA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Mucopolysaccharidosis Ih/s (Hurler syndrome) 607014 607016 Tags
Green Green List (high evidence)	IFT122	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Cranioectodermal dysplasia 1 MIM#218330 MONDO:0021093 Tags
Green Green List (high evidence)	IHH	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Craniosynostosis, Philadelphia type Tags 5'UTR SV/CNV
Green Green List (high evidence)	IL11RA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Craniosynostosis and dental anomalies, MIM# 614188 Tags
Green Green List (high evidence)	IRX5	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hamamy syndrome MIM#611174 Tags
Green Green List (high evidence)	KAT6A	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Arboleda-Tham syndrome, MIM#616268 Tags
Green Green List (high evidence)	KAT6B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes SBBYSS syndrome, MIM# 603736 Tags
Green Green List (high evidence)	KRAS	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Noonan syndrome Tags
Green Green List (high evidence)	LTBP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cutis laxa, autosomal recessive, type IIE MIM#619451 Tags
Green Green List (high evidence)	MAN2B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Mannosidosis, alpha-, types I and II, MIM# 248500 Tags
Green Green List (high evidence)	MAP3K20	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Syndromic disease, MONDO:0002254, MAP3K20-related Tags
Green Green List (high evidence)	MASP1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes 3MC syndrome, MIM#257920 Tags
Green Green List (high evidence)	MEGF8	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Carpenter syndrome, MIM#614976 Tags
Green Green List (high evidence)	MSX2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Craniosynostosis 2, MIM# 604757 Tags
Green Green List (high evidence)	NFIA	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Craniosynostosis MONDO:0015469, NFIA-related Tags
Green Green List (high evidence)	NFIX	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Malan syndrome, MIM# 614753 Tags
Green Green List (high evidence)	P4HB	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Cole-Carpenter syndrome 1, MIM# 112240 Tags
Green Green List (high evidence)	PHEX	1 review 1 green	Other	Sources Expert list Expert Review Green Phenotypes Hypophosphatemic rickets, X-linked dominant, MIM# 307800 Tags
Green Green List (high evidence)	POR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, MIM# 201750 Tags
Green Green List (high evidence)	PRRX1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Craniosynostosis, MONDO:0015469, PRRX1-related Tags
Green Green List (high evidence)	PTPN11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Noonan syndrome Tags
Green Green List (high evidence)	RAB23	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Carpenter syndrome (MIM#201000) Tags
Green Green List (high evidence)	RECQL4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Baller-Gerold syndrome, MIM# 218600 Tags
Green Green List (high evidence)	RNU12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes CDAGS syndrome MIM#603116 Craniosynostosis, Delayed closure of the fontanelles, cranial defects, clavicular hypoplasia, Anal and Genitourinary malformations, and Skin manifestations Tags
Green Green List (high evidence)	RUNX2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Craniosynostosis Tags SV/CNV
Green Green List (high evidence)	SIX1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Sagittal synostosis Multi-suture synostosis Tags
Green Green List (high evidence)	SKI	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Shprintzen-Goldberg syndrome, MIM# 182212 Tags
Green Green List (high evidence)	SLC25A24	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fontaine progeroid syndrome MIM#612289 Tags
Green Green List (high evidence)	SMAD3	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Loeys-Dietz syndrome 3, MIM# 613795 Tags
Green Green List (high evidence)	SMAD6	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes {Craniosynostosis 7, susceptibility to}, MIM# 617439 Tags
Green Green List (high evidence)	SMO	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Curry-Jones syndrome, somatic mosaic, MIM# 601707 Tags somatic
Green Green List (high evidence)	SOX6	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes ADHD Craniosynostosis Osteochondromas Tolchin-Le Caignec syndrome, MIM#618971 Tags
Green Green List (high evidence)	SPECC1L	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Hypertelorism, Teebi type MIM#145420 Opitz GBBB syndrome, type II, MIM#145410 Tags
Green Green List (high evidence)	TCF12	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Craniosynostosis 3, MIM# 615314 Tags
Green Green List (high evidence)	TFAP2B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Syndromic craniosynostosis Tags
Green Green List (high evidence)	TGFBR1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Loeys-Dietz syndrome Tags
Green Green List (high evidence)	TGFBR2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes LOEYS-DIETZ SYNDROME Tags
Green Green List (high evidence)	TRAF7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Cardiac, facial, and digital anomalies with developmental delay, MIM# 618164 Tags
Green Green List (high evidence)	TSHR	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hyperthyroidism, nonautoimmune - MIM#609152 Hyperthyroidism, familial gestational - MIM#603373 Hypothyroidism, congenital, nongoitrous, 1 - MIM#275200 Tags
Green Green List (high evidence)	TWIST1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Craniosynostosis 1, MIM# 123100 Saethre-Chotzen syndrome with or without eyelid anomalies, MIM# 101400 Tags 5'UTR SV/CNV
Green Green List (high evidence)	WDR19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cranioectodermal dysplasia 4 , OMIM # 614378 Tags
Green Green List (high evidence)	WDR35	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cranioectodermal dysplasia 2, MIM# 613610 Tags
Green Green List (high evidence)	ZIC1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Structural brain anomalies with impaired intellectual development and craniosynostosis, MIM# 618736 Craniosynostosis 6, MIM# 616602 Tags
Green Green List (high evidence)	ZNF462	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Weiss-Kruszka syndrome, MIM#618619 Tags
Amber Amber List (moderate evidence)	DPH1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes 616901 DEVELOPMENTAL DELAY WITH SHORT STATURE, DYSMORPHIC FACIAL FEATURES, AND SPARSE HAIR Tags
Amber Amber List (moderate evidence)	EFNA4	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Coronal and metopic craniosynostosis Tags
Amber Amber List (moderate evidence)	ESCO2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes 268300 ROBERTS SYNDROME Tags
Amber Amber List (moderate evidence)	FGF10	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Craniosynostosis Tags
Amber Amber List (moderate evidence)	GNAS	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Pseudohypoparathyroidism type 1a, MIM# 103580 Craniosynostosis Tags
Amber Amber List (moderate evidence)	GPC3	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Phenotypes Simpson-Golabi-Behmel syndrome, type 1 MIM#312870 Tags
Amber Amber List (moderate evidence)	IL6ST	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Hyper-IgE recurrent infection syndrome 4B, autosomal recessive, MIM# 618523 Tags
Amber Amber List (moderate evidence)	JAG1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Alagille syndrome 1, MIM# 118450 Tags
Amber Amber List (moderate evidence)	LMX1B	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Coronal craniosynostosis Tags
Amber Amber List (moderate evidence)	PJA1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Phenotypes Intellectual disability trigonocephaly Tags founder
Amber Amber List (moderate evidence)	POLR1A	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Literature Phenotypes Acrofacial dysostosis, Cincinnati type MIM#616462 Tags
Amber Amber List (moderate evidence)	RARA	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Craniosynostosis - MONDO:0015469 Tags
Amber Amber List (moderate evidence)	SHOC2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Noonan syndrome with loose anagen hair Tags
Amber Amber List (moderate evidence)	SPRY1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Craniosynostosis, SPRY1-related, MONDO:0015469 Tags
Amber Amber List (moderate evidence)	STAT3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Hyper-IgE recurrent infection syndrome, MIM# 147060 Tags
Amber Amber List (moderate evidence)	TLK2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Mental retardation, autosomal dominant 57, MIM#618050 Tags
Amber Amber List (moderate evidence)	TMCO1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome, MIM# 213980 Tags
Amber Amber List (moderate evidence)	ZEB2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Mowat-Wilson syndrome MIM#235730 Tags
Red Red List (low evidence)	BMP7	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Non-syndromic metopic craniosynostosis Tags
Red Red List (low evidence)	CHST3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes 143095 SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS Tags
Red Red List (low evidence)	FREM1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Trigonocephaly 2, MIM# 614485 Tags disputed
Red Red List (low evidence)	GINS2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Meier-Gorlin syndrome with craniosynostosis Tags
Red Red List (low evidence)	SCARF2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Van den Ende-Gupta syndrome MIM#600920 Tags

Craniosynostosis (Version 1.68)

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101 Entities

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