Table 2 Description of the rare conditions that were encountered

Cardiovascular number of patients: 9

Aortic stenosis

X

Bicuspid aortic valve

X

CC1CNA1c heart defect

X

Coarctation of the aorta

X

Congenital heart disease

XX

Hypoplastic left heart

X

Unbalanced AVSD

X

WPW Syndrome

X

Endocrine number of patients: 11

Addisons

X

X

Hypercalcaemia

X

Hypospadias

X

MRKH

XXXXX

PMDS

X

Pseudohypoparathyroidism

X

X

ENT number of patients: 1

Deaf in right ear

X

Gastrointestinal number of patients: 9

Achalasia

X

Alagilles

X

Chronic pseudo obstruction of large colon

X

Giant exomphalos

X

Hirschprungs disease

XXX

Congenital diaphragmatic hernia

X

Tracheo oesophageal fistula

X

Haematological/immune disorder number of patients: 6

Antiphospholipid

X

Autoimmune neutropenia

X

Chronic mucocutaneous candidiasis

X

`HSP

X

Hypergammaglobulinaemia

X

Lysosomal number of patients: 4

Batten disease CLN2

X

X

MPS 1—Hurler syndrome

XX

Metabolic number of patients: 2

Glycogen storage disease IX

X

MCADD

X

Musculoskeletal/dermatological number of patients: 22

Achondroplasia

X

Albinism

X

Arthrogyroposis

X

Crouzon

XXX

Epidermolysis bullosa

X

Erythromelalgia

XX

Fibular hemimelia

X

Malignant infantile osteoporosis

X

Mandibulofacial dystosis with microcephaly

X

Marfan

X

Mixed connective tissue disorder

X

XX

Popliteal pterygium syndrome

X

Raynauds

X

Sjogrens

XX

Talipes

X

Weaver syndrome

X

Neurodevelopmental number of patients: 13

Brain AVM

X

Brain injury

X

Cornella de lange

X

XX

CTNNB1 syndrome

X

Joubert syndrome

X

PAK1 neurodevelopmental disorder

X

Periventricular leukomalacia

X

Rett syndrome

X

X

Riboflavin transporter deficiency

X

William syndrome

X

Neuromuscular number of patients: 7

Adems disease

X

DMD

X

M.E.R.R.F

X

Small fibre neuropathy

X

Spinal muscle atrophy type 1

X

Sturge Weber

X

Worster drought syndrome

X

Oncological number of patients: 8

ALL

X

Brain tumour

XX

Ewing sarcoma

XX

Medulloblastoma

X

Polycystic astrocytoma

X

Retinoblastoma

X

Ophthalmological number of patients: 1

Bilateral congenital cataracts

X

Renal number of patients: 4

Bartter syndrome

X

CKD

X

Nephrogenic DI

X

Nephrotic syndrome

X

Respiratory number of patients: 1

NEH1 interstitial lung disease

X

Syndrome number of patients: 37

Bardet Biedi syndrome

X

Beckwith-wiedemann syndrome

X

Chromosome 2 deletion

X

Chromosome 7 partial deletion

X

Chromosome 8 disorder

X

Chromosome 8 disorder—short arm deletion, long arm duplication

X

CLTC chromosome abnormality

X

Deletion of 10p gene 13-15p

X

Di George

XX

Edwards/trisomy 18

X

Inverted duplication and deletion of 8p

X

Mosaic ring 14

X

Mowat Wilson syndrome

X

Noonan syndrome

X

X

Patau/trisomy 13

XX

X

Prader Willi

Primary ciliary dyskinesia

X

X

Treacher Collins syndrome

XX

Trichothiodystrophy

X

Trisomy 14

XXX

Tuberose sclerosis

XX

X

`Turner syndrome

X

Wolf-Hisrchhorn syndrome-9p

X

1Q43 deletion

X

16p11.2 micro deletion

X

22q11.2 deletion syndrome

X