Table 1.

Summary of clinical features

Individual	F1	F2.1	F2.2	F3
Amino acid change (NM_031934.6)	p.(Arg211His)	p.(Gly202Val)	p.(Gly202Val)	p.(Glu218Lys)
Inheritance	Homozygous	Homozygous	Homozygous	Homozygous
Gender	Male	Male	Male	Male
Country of origin	Morocco	Czech Republic	Czech Republic	Morocco
Consanguineous	Yes	No	No	Yes
Age at last examination	22 + 1 WG	13 + 5 WG	21 + 6 WG	3 months
Prenatal ultrasound signs	Oral cleft, Hand-foot polydactyly, Abnormal cardiac morphology, Short fetal femur length, Renal hypertrophy	Multiple developmental defects	Multiple developmental defects	Bilateral cleft lip, Hand-foot polydactyly, Atrioventricular canal defect, Corpus callosum agenesis, Polyhydramnios
Neonatal issues	NA	NA	NA	Respiratory distress
Cranio-facial defects	Hypertelorism, Microtia	Micrognathia, Turricephaly	Hypertelorism, Synophris Micrognathia, Low-set ears	Macrocephaly, Broad forehead, Wide nasal bridge, Retrognathia
Oral anomalies	Bilateral oral cleft, Short lingual frenulum	Bilateral oral cleft	Bilateral oral cleft	Bilateral oral cleft, Lobulated tongue
Hand anomalies	Bilateral polysyndactyly	Prexial and central polydactyly (heptadactyly)	Preaxial and central polydactyly (heptadactyly)	Bilateral polysyndactyly
Foot anomalies	Bilateral polysyndactyly, Deviation of the hallux	Prexial and central polydactyly (heptadactyly)	Preaxial and central polydactyly (left hexadactyly, right ectrodactyly), Deviation of the right hallux	Bilateral polysyndactyly
Structural cerebral anomalies	Corpus callosum agenesis, Cerebellar hypoplasia	NA	NA	Corpus callosum agenesis
Cardiac anomalies	Ventricular septal defect, Left ventricular hypoplasia	No	Hypoplastic left heart, Persistent truncus arteriosus	Atrioventricular canal defect
Other clinical features	Anal atresia, Short femur	Small anus	Anal atresia, Short femur and humerus, Bilobar right lung	Anorectal anomaly, Possible Hirschsprung Dyspnea, Pneumopathy

Overview of clinical features observed in individuals with pathogenic RAB34 variants. NA, not available.