Rare Disease Library

Sanjad-Sakati syndrome

HRD syndrome · Hypoparathyroidism-intellectual disability-dysmorphism syndrome

Acute interstitial pneumonia

Acute interstitial pneumonitis · Hamman-Rich syndrome

Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome

Feigenbaum-Bergeron-Richardson syndrome · Atherosclerosis-hearing loss-diabetes-epilepsy-nephropathy syndrome

Autosomal recessive spastic paraplegia type 23

Lison syndrome · SPG23

Axenfeld-Rieger syndrome

Axenfeld syndrome · Rieger syndrome

Char syndrome

Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits

CHARGE syndrome

CHARGE association · Coloboma-heart defects-atresia choanae-retardation of growth and development-genitourinary problems-ear abnormalities syndrome

Classic progressive supranuclear palsy syndrome

Steele-Richardson-Olszewski disease · Richardson syndrome

Cutis verticis gyrata-thyroid aplasia-intellectual disability syndrome

Akesson syndrome

ICHAD syndrome

Immune dysregulation-craniofacial anomalies-hearing impairment-athelia-developmental delay syndrome

KBG syndrome

Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome · ANKRD11-related disorder

KID syndrome

KID/HID syndrome · Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome

Kindler epidermolysis bullosa

Kindler syndrome · Poikiloderma of Kindler

Microcephaly-digital anomalies-intellectual disability syndrome

Kelly-Kirson-Wyatt syndrome

Multiple benign circumferential skin creases on limbs

CCSF · Congenital circumferential skin folds

Nelson syndrome

Pearson syndrome

Pearson marrow-pancreas syndrome · PMPS

Pierson syndrome

Microcoria-congenital nephrosis syndrome

Posterior cortical atrophy

Benson syndrome · Biparietal Alzheimer disease

Proximal myotonic myopathy

Myotonic dystrophy type 2 · Proximal myotonic dystrophy

Ramon syndrome

Cherubism-gingival fibromatosis-intellectual disability syndrome

Richards-Rundle syndrome

Ketoaciduria-intellectual disability-ataxia-deafness syndrome · Ketoaciduria-intellectual disability-ataxia-hearing loss syndrome

RIDDLE syndrome

RNF168 deficiency · Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome

RIN2 syndrome

MACS syndrome · Macrocephaly-alopecia-cutis laxa-scoliosis syndrome

Ring chromosome 1 syndrome

Ring chromosome 1 · Ring 1

Ring chromosome 4 syndrome

Ring chromosome 4 · Ring 4

Ring chromosome 8 syndrome

Ring chromosome 8 · Ring 8

Smith-Lemli-Opitz syndrome

7-dehydrocholesterol reductase deficiency · RSH syndrome

Trisomy 18 syndrome

Chromosome 18 duplication · Edwards syndrome

Tyrosinemia type 2

Keratosis palmoplantaris-corneal dystrophy syndrome · Oculocutaneous tyrosinemia

Walker-Warburg syndrome

HARD syndrome · Hydrocephalus-agyria-retinal dysplasia syndrome

Watson syndrome

Pulmonic stenosis with 'café-au-lait' spots

X-linked intellectual disability-macrocephaly-macroorchidism syndrome

Johnson syndrome