Table 1.

Overview of the clinical presentation of affected individuals FA.II‐1, FA.II‐2, and FB.II‐2

Features	FA.II‐1	FA.II‐2	FB.II‐2
Country of origin	Pakistan	Pakistan	Germany
Gender	Male	Female	Female
Age at last evaluation (years)	21	18	11
Birth measurements	2040 g; OFC: 33 cm	2985 g; L: 50 cm; OFC: 34 cm	NR
Neurological
Developmental delay/hypotonia	Yes	Yes	Yes
Oculomotor apraxia	Yes	Yes	Yes
Cerebellar ataxia/wide‐based gait	Yes	Yes	Yes
Central breathing pattern abnormality during infancy	Yes	Yes	Yes
Intellectual disability	IQ: 64	IQ: 63	Yes
Skeletal
Postaxial hexadactyly	No	Left hand	All limbs
5th	Yes	Yes	Yes
Otorhinolaryngo and respiratory
Excessive expectoration	Yes	Yes	Yes
Dyspnea	Yes	Yes	NR
Chronic sinusitis and rhinitis	Yes	Yes	Yes
Chronic otitis media	Yes	No	Yes
Ectodermal
Dental anomalies	Yes	No	No
Skin hypopigmentation	No	No	Yes

Abbreviation: NR, not reported; OFC, occipitofrontal head circumference.