Rare Disease Library

Focal stiff limb syndrome

Focal stiff-person syndrome · Stiff leg syndrome

Acropectorovertebral dysplasia

F syndrome

Autosomal recessive spastic paraplegia type 23

Lison syndrome · SPG23

Classic stiff person syndrome

Classic SPS · Classic stiff man syndrome

Donnai-Barrow syndrome

DBS/FOAR syndrome · Diaphragmatic hernia-exomphalos-hypertelorism syndrome

Facial onset sensory and motor neuronopathy

FOSMN syndrome

FOXG1 syndrome

FOXG1-related epileptic-dyskinetic encephalopathy

FOXP1 Syndrome

FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome

Hereditary hyperekplexia

Congenital stiff man syndrome · Familial startle disease

KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome

PERCHING syndrome

Palmoplantar keratoderma-esophageal carcinoma syndrome

Bennion-Patterson syndrome · Howell-Evans syndrome

Patterson-Stevenson-Fontaine syndrome

Patterson-Stevenson syndrome · Split foot deformity-mandibulofacial dysostosis syndrome

Pearson syndrome

Pearson marrow-pancreas syndrome · PMPS

PEHO syndrome

Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy

Pelvic dysplasia-arthrogryposis of lower limbs syndrome

Ray-Peterson-Scott syndrome

PENS syndrome

Papular epidermal nevi with skyline basal cell layers syndrome

Perlman syndrome

Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome

Perrault syndrome

XX gonadal dysgenesis-hearing loss syndrome · XX gonadal dysgenesis-deafness syndrome

Perry syndrome

Parkinsonism with alveolar hypoventilation and mental depression

Pierson syndrome

Microcoria-congenital nephrosis syndrome

Plummer-Vinson syndrome

Kelly-Paterson syndrome · Sideropenic dysphagia

POEMS syndrome

Crow-Fukase syndrome · Osteosclerotic myeloma

Progeroid syndrome, Petty type

Petty syndrome · Petty-Laxova-Wiedemann syndrome

Pseudoleprechaunism syndrome, Patterson type

Patterson syndrome · Patterson pseudoleprechaunism syndrome

Stiff skin syndrome