. Author manuscript; available in PMC: 2026 Sep 29.

Published in final edited form as: Am J Med Genet A. 2020 Sep 5;182(11):2632–2640. doi: 10.1002/ajmg.a.61843

TABLE 1.

Patient demographics, molecular variants, and skeletal phenotype based on physical examination

Participant ID	BAB5264^a	BAB9236^b	BAB9128^b	BAB9126^c	BAB9138^b	BAB9136^c	BAB8295^b
Age (years)	10	14	21	51	8	22	11
Sex	M	M	M	M	M	M	M
Height percentile	<3%ile	3–10%ile	<3%ile	3–10%ile	<3%ile	<3%ile	<3%ile
Affected gene	DVL1	DVL1	DVL1	DVL1	WNT5A	ROR2	GPC4 (candidate gene)
HGVS	NM_004421.2	NM_004421.2	NM_004421.2	NM_004421.2	NM_003392.4	NM_004560.3	NM_001448.2
Nucleotide change	c.1519delT	c.1608_1623del	c.1612_1616dup	c.1612_1616dup	c.479C > G	c.899G > T+ c.990delC	c.1235G > A
Amino acid change	p.W507Gfs*142	p.S537Vfs*107	p.S539Rfs*112	p.S539Rfs*112	p.S160C;	p.C300F+ p.T331Pfs*114	p.R412K
Skeletal exam
Brachydactyly	+	+	+	+	+	+	+
Clinodactyly	+	+	+	+	+	+	+
Camptodactyly	ukn	−	−	−	−	+	+
Limb length anomaly	Mesomelia	Rhizomelia	Rhizomelia	Mesomelia	Micromelia	Mesomelia	Mesomelia
Limited supination	−	−	+	−	+	+	−
Genu valgus	−	+	−	−	−	−	−
Vertebrae anomaly	−	−	−	−	Hemivertebrae	Hemivertebrae, scoliosis	−
Fused ribs	−	−	−	−	−	+	ukn
Foramina stenosis	ukn	ukn	ukn	ukn	ukn	ukn	+

Note: The “+” signifies that the patient is positive and “−” negative for a given phenotype. The “ukn” signifies it was not ascertained whether or not the phenotype was present at the time of evaluation.

Subject reported in White et al. (2015).

Subject reported in White et al. (2018).

Subject reported in Mazzeu et al. (2007).