Table 1.

Clinical features in two probands with the c.1961A>C [p.Tyr654Ser] MIDEAS variant

	Proband 1	Proband 2
Age at last examination (years)	26	9
MIDEAS variant cDNA (GenBank: NM_001367710.1)	c.1961A>C	c.1961A>C
Polypeptide	p.Tyr654Ser (p.Y654S)	p.Tyr654Ser (p.Y654S)
Genomic DNA GRCh38 (hg38): chr14:73729774 T > G	chr14:73729774 T > G	chr14:73729774 T > G
Inheritance	De novo	De novo
Onset	~4 months Developmental delay, failure to thrive	Birth, respiratory distress, dysmorphic featues noted
Craniofacial dysmorphism	Ptosis Short and narrow palpebral fissures Low-hanging columella Limited facial expression Narrow mouth Prominent nasal bridge	Ptosis Short and narrow palpebral fissures Low-hanging columella Limited facial expression Narrow mouth
Birth weight	Normal	Normal
Growth	Postnatal growth failure with adult short-limb disproportionate stature	Not applicable
Height at last examination	140 cm (−6.18 SD)	−1.35 SD
Development	Delayed motor and speech development, SON-R 71 at age nine years, SON-RS 84, SON-PS 63	Delayed development of speech at age 6 years, autism
Muscoloskeletal features	Multiple joint contractures, very stiff joints, slightly progressive	Contractures knees
Gastrointestinal	Diarrhoea Volvulus Gastrointestinal dysmotility with pseudo-obstruction	Diarrhoea Nasogastric tube from age 8 months PEG fed from 20 months to 7 years
Hearing/vision	Mixed (mainly sensorineural) hearing impairment	Conductive hearing impairment
Integument	Thickened skin Eczema	Eczema