24
(87.7%)

FANCE

Cleft palate Epicanthus Hypoplasia of the ulna Micrognathia Short thumb

Fanconi anemia complementation group E (OMIM) Fanconi anemia (ORDO)

Autosomal recessive inheritance

24
(87.7%)

FANCI

Cleft palate Epicanthus Hypoplasia of the ulna Micrognathia Short 1st metacarpal

Fanconi anemia complementation group I (OMIM) Fanconi anemia (ORDO)

Autosomal recessive inheritance

24
(87.7%)

PALB2

Cleft palate Epicanthus Hypoplasia of the ulna Micrognathia Short thumb

hereditary breast carcinoma (OMIM) Fanconi anemia complementation group N (OMIM) Familial pancreatic carcinoma (ORDO) Hereditary breast and ovarian cancer syndrome (ORDO) Fanconi anemia (ORDO)

Autosomal dominant inheritance Somatic mutation Autosomal recessive inheritance

24
(87.7%)

BRCA2

Cleft palate Epicanthus Hypoplasia of the ulna Micrognathia Short thumb

hereditary breast carcinoma (OMIM) medulloblastoma (OMIM) familial prostate carcinoma (OMIM) Wilms tumor 1 (OMIM) Fanconi anemia complementation group D1 (OMIM) breast-ovarian cancer, familial, susceptibility to, 2 (OMIM) glioma susceptibility 3 (OMIM) pancreatic cancer, susceptibility to, 2 (OMIM) Familial pancreatic carcinoma (ORDO) Hereditary breast and ovarian cancer syndrome (ORDO) Nephroblastoma (ORDO) Fanconi anemia (ORDO)

Autosomal dominant inheritance Somatic mutation Autosomal recessive inheritance Heterogeneous Multifactorial inheritance

24
(87.7%)

RECQL4

Cleft palate Epicanthus Hypoplasia of the ulna Micrognathia Short thumb

Baller-Gerold syndrome (OMIM) rapadilino syndrome (OMIM) Rothmund-Thomson syndrome type 2 (OMIM) Baller-Gerold syndrome (ORDO) Rothmund-Thomson syndrome type 2 (ORDO)

Autosomal recessive inheritance

36
(87.7%)

FGFR3

Aplasia/Hypoplasia of the mandible Cleft palate Epicanthus Hypoplasia of the ulna Short middle phalanx of finger

achondroplasia (OMIM) urinary bladder cancer (OMIM) hypochondroplasia (OMIM) LADD syndrome (OMIM) nevus, epidermal (OMIM) thanatophoric dysplasia type 1 (OMIM) thanatophoric dysplasia type 2 (OMIM) testicular germ cell tumor (OMIM) Muenke syndrome (OMIM) cervical cancer (OMIM) camptodactyly-tall stature-scoliosis-hearing loss syndrome (OMIM) Crouzon syndrome-acanthosis nigricans syndrome (OMIM) severe achondroplasia-developmental delay-acanthosis nigricans syndrome (OMIM) Achondroplasia (ORDO) Thanatophoric dysplasia type 1 (ORDO) Isolated plagiocephaly (ORDO) Isolated brachycephaly (ORDO) Hypochondroplasia (ORDO) Muenke syndrome (ORDO) Saethre-Chotzen syndrome (ORDO) Camptodactyly-tall stature-scoliosis-hearing loss syndrome (ORDO) Severe achondroplasia-developmental delay-acanthosis nigricans syndrome (ORDO) Crouzon syndrome-acanthosis nigricans syndrome (ORDO) Thanatophoric dysplasia type 2 (ORDO)

Autosomal dominant inheritance Somatic mutation Somatic mosaicism Sporadic Autosomal recessive inheritance

37
(87.3%)

JAG1

Hypoplasia of the ulna Short distal phalanx of finger Thin vermilion border Upslanted palpebral fissure

Alagille syndrome due to a JAG1 point mutation (OMIM) tetralogy of fallot (OMIM) Tetralogy of Fallot (ORDO)

Autosomal dominant inheritance Multifactorial inheritance

38
(87.3%)

PSMD12

Downslanted palpebral fissures Micrognathia Short thumb Thin upper lip vermilion Upper limb undergrowth

Stankiewicz-Isidor syndrome (OMIM) 17q24.2 microdeletion syndrome (ORDO)

Autosomal dominant inheritance

38
(87.3%)

SLC26A2

Epicanthus Micrognathia Short middle phalanx of finger Thin upper lip vermilion Upper limb undergrowth

diastrophic dysplasia (OMIM) multiple epiphyseal dysplasia type 4 (OMIM) atelosteogenesis type II (OMIM) achondrogenesis type IB (OMIM) Atelosteogenesis type II (ORDO) Diastrophic dwarfism (ORDO) Achondrogenesis type 1B (ORDO) Multiple epiphyseal dysplasia type 4 (ORDO)

Autosomal recessive inheritance

40
(87.1%)

FRAS1

Aplasia/Hypoplasia of the sternum Aplasia/Hypoplasia of the thumb Cleft upper lip Upper eyelid coloboma

Fraser syndrome 1 (OMIM) Fraser syndrome (ORDO)

Autosomal recessive inheritance