Table 1.

Phenotypic features in affected family members.

Features	III-2	III-3*	II-2	I-2	II-4	I-4	II-5	III-4	III-5	III-6
Ocular:
ARA and/or glaucoma	−	+	−	+	−	−	+	+	+	+
Myopia	+	+	+	+	+	U	U	U	U	U
Retinal detachment/degeneration	−	−	−	+	+	+	U	U	U	U
Craniofacial:
Microcephaly	+	+	+	+	U	U	+	+	+	+
Dysmorphic facial features	+	+	+	U	U	U	+	+	+	+
Square face with prominent jaw	+	+	+	U	U	U	U	+	+	U
Hearing loss	+	+	+	+	U	U	−	+	−	−
Delayed dental eruption	+	+	+	U	U	U	U	U	U	U
Premature loss of permanent teeth	U	U	+	+	U	U	U	U	U	U
Other:
Hypothyroidism	+	+	−	−	U	U	−	+	+	+
Brain vascular anomalies	+	+	U	U	U	U	U	U	U	U
Limb anomalies	+	+	−	U	U	U	+	+	+	+
Kidney anomalies	−	−	+	+	U	U	U	U	U	U
ADAMTSL1 variant	+	+	+	+	U	U	U	U	U	U

+ feature present; − feature absent; U unknown,

^*indicates proband