Table 2.

Description of the rare conditions that were encountered

Rare disease category	Specific rare disease	Diagnosis < 3 years old	Diagnosis between age 3–18 years old	Age of diagnosis unknown
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

The table below shows the 103 different rare conditions in the 114 patients with a formal diagnosis. Nine patients had more than one rare condition

ALL acute lymphoblastic leukaemia, AVM arteriovenous malformation, AVSD atrioventricular septal defect, CKD chronic kidney disease, CTLC cutaneous T-cell lymphoma, DI diabetes insipidus, DMD duchenne muscular dystrophy, HSP Henoch Schönlein purpura, MCADD medium chain acyl CoA dehydrogenase deficiency; MPS 1 mucopolysaccharidosis type 1, MRKH Mayer Rokitansky Kuster Hauser Syndrome, PMDS Persistent Mullerian Duct Syndrome, WPW Wolff–Parkinson–White