Identification of a Novel Homozygous Missense (c.443A>T:p.N148I) Mutation in BBS2 in a Kashmiri Family with Bardet-Biedl Syndrome

Table 2

A brief diagnostic assessment of both patients.

	Case I (IV-2)	Case II (IV-3)
Sex/age (years)	F/28	M/26
Height (cm)/weight (kg)	146/71	150/73.5
Major phenotypes
Retinitis pigmentosa	+	+
Obesity	+	+
Hypogonadism	+	+
Polydactyly (feet)	+	—
Polydactyly (hands)	+	+
Renal anomalies	+	+
Cognitive impairment	+	+
Minor phenotypes
Hearing loss	—	—
Menstruation in female	Yes	—
Micro penis	—	Yes
Syndactyly	—	—
Diabetes mellitus	+	+
Heart problems	—	—
Hearing loss	—	—
Tooth pattern	Irregular	Irregular
Short neck, low nose bridge	+	+
Speech development	Delay	Delay
Growth condition	Normal	Normal
Behavioral expression	Hyperactive	Hyperactive
Eyesight	Weak	Weak
Facial morphology	Normal	Normal