Title | Conditions covered | Disorder | |
---|---|---|---|
Disorders of Function | Extreme early-onset hypertension | Renal & Urinary Tract Disorders | Download PDF |
DNA Repair Disorders | Xeroderma Pigmentosum (XP)-like disorders | Dysmorphic & Congenital Abnormalities | Download PDF |
Deafness and Congenital Structural Abnormalities | Ear malformations with hearing impairment | Hearing & Ear Disorders | Download PDF |
Respiratory Disorders | Familial pulmonary fibrosis | Respiratory Disorders | Download PDF |
Urea Cycle Disorders & Lysosomal Storage Disorders | Hyperammonaemia | Metabolic Disorders | Download PDF |
Specific Metabolic Abnormalities | Specific Metabolioc Abnormalities | Metabolic Disorders | Download PDF |
Mitochondrial and Peroxisomal Disorders | Mitchondrial | Metabolic Disorders | Download PDF |
Breast and Endocrine | Familial breast cancer | Tumour Syndromes | Download PDF |
Neurology - PNS | Paediatric Motor Neuronopathies | Neurology | Download PDF |
Growth Hormone Disorders & Obesity Syndromes | Significant Early-onset Obesity Syndromes | Endocrine | Download PDF |
Kabuki & Autophagy | Kabuki Syndrome | Dysmorphic & Congenital Abnormalities | Download PDF |
Balanced Translocation & Limb Disorders | Balanced Translocation | Dysmorphic & Congenital Abnormalities | Download PDF |
Dysmorphic Disorders #2 | PHACE(s) Syndrome | Dysmorphic & Congenital Abnormalities | Download PDF |
Dysmorphic Disorders #1 | Syndromic Cleft Lip and or Cleft Palate | Dysmorphic & Congenital Abnormalities | Download PDF |
Neurology - CNS #2 | Neurotransmitter Disorders | Neurology | Download PDF |
Title | Conditions covered | Disorder |