1
(100.0%)

DHODH

Cleft upper lip Eyelid coloboma Hypoplasia of the ulna Micrognathia Short thumb

postaxial acrofacial dysostosis (OMIM) Postaxial acrofacial dysostosis (ORDO)

Autosomal recessive inheritance

1
(100.0%)

SEMA3E

Cleft upper lip Eyelid coloboma Hypoplasia of the ulna Micrognathia Short thumb

hypogonadotropic hypogonadism 7 with or without anosmia (OMIM) CHARGE syndrome (OMIM) CHARGE syndrome (ORDO)

Autosomal recessive inheritance Autosomal dominant inheritance Sporadic

1
(100.0%)

CHD7

Cleft upper lip Eyelid coloboma Hypoplasia of the ulna Micrognathia Short thumb

CHARGE syndrome (OMIM) hypogonadotropic hypogonadism 5 with or without anosmia (OMIM) CHARGE syndrome (ORDO) Omenn syndrome (ORDO) Normosmic congenital hypogonadotropic hypogonadism (ORDO) Kallmann syndrome (ORDO)

Autosomal dominant inheritance Sporadic Autosomal recessive inheritance

4
(98.7%)

ESCO2

Aplasia of the ulna Cleft upper lip Eyelid coloboma Micrognathia Short thumb

Roberts-SC phocomelia syndrome (OMIM) SC phocomelia syndrome (OMIM) Roberts syndrome (ORDO)

Autosomal recessive inheritance

5
(96.1%)

SF3B4

Aplasia/Hypoplasia of the ulna Cleft upper lip Hand oligodactyly Lower eyelid coloboma Microretrognathia

Nager acrofacial dysostosis (OMIM) Acrofacial dysostosis, Rodríguez type (ORDO) Nager syndrome (ORDO)

Autosomal dominant inheritance Autosomal recessive inheritance

6
(92.6%)

FGFR1

Cleft upper lip Eyelid coloboma Micrognathia Short metatarsal Shortening of all middle phalanges of the fingers

Pfeiffer syndrome (OMIM) Jackson-Weiss syndrome (OMIM) hypogonadotropic hypogonadism 2 with or without anosmia (OMIM) osteoglophonic dwarfism (OMIM) trigonocephaly 1 (OMIM) encephalocraniocutaneous lipomatosis (OMIM) Hartsfield-Bixler-Demyer syndrome (OMIM) Hartsfield syndrome (ORDO) Encephalocraniocutaneous lipomatosis (ORDO) Osteoglosphonic dysplasia (ORDO) Microform holoprosencephaly (ORDO) Septo-optic dysplasia spectrum (ORDO) Isolated trigonocephaly (ORDO) Normosmic congenital hypogonadotropic hypogonadism (ORDO) Kallmann syndrome (ORDO) Pfeiffer syndrome type 1 (ORDO) Oligodontia (ORDO)

Autosomal dominant inheritance Heterogeneous Somatic mosaicism Sporadic Autosomal recessive inheritance

7
(90.5%)

LRP4

Downslanted palpebral fissures Hypoplasia of the ulna Micrognathia Short finger Short philtrum

Cenani-Lenz syndactyly syndrome (OMIM) sclerosteosis 2 (OMIM) congenital myasthenic syndrome 17 (OMIM) Sclerosteosis (ORDO) Cenani-Lenz syndrome (ORDO) Postsynaptic congenital myasthenic syndromes (ORDO)

Autosomal recessive inheritance Autosomal dominant inheritance

7
(90.5%)

PDE4D

Epicanthus Hypoplasia of the ulna Micrognathia Short middle phalanx of finger Thin upper lip vermilion

acrodysostosis 2 with or without hormone resistance (OMIM) Acrodysostosis with multiple hormone resistance (ORDO) PDE4D haploinsufficiency syndrome (ORDO) Acrodysostosis (ORDO)

Autosomal dominant inheritance

7
(90.5%)

CHST3

Downslanted palpebral fissures Hypoplasia of the ulna Long philtrum Microretrognathia Short distal phalanx of finger

spondyloepiphyseal dysplasia with congenital joint dislocations (OMIM) Larsen-like syndrome, B3GAT3 type (OMIM) CHST3-related skeletal dysplasia (ORDO)

Autosomal recessive inheritance

7
(90.5%)

APC

Downslanted palpebral fissures Hypoplasia of the ulna Micrognathia Short thumb Thick upper lip vermilion

hepatocellular carcinoma (OMIM) desmoid tumor (OMIM) familial adenomatous polyposis 1 (OMIM) gastric cancer (OMIM) APC-related attenuated familial adenomatous polyposis (ORDO) Familial adenomatous polyposis due to 5q22.2 microdeletion (ORDO) Cenani-Lenz syndrome (ORDO) Gardner syndrome (ORDO) Desmoid tumor (ORDO) Turcot syndrome with polyposis (ORDO)

Heterogeneous Somatic mutation Autosomal dominant inheritance Autosomal recessive inheritance