Rare Disease Library

Thoracomelic dysplasia

Rivera-Perez-Salas syndrome · Thoracolimb dysplasia, Rivera type

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

PERCHING syndrome

PEHO syndrome

Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy

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

POEMS syndrome

Crow-Fukase syndrome · Osteosclerotic myeloma

Progeroid syndrome, Petty type

Petty syndrome · Petty-Laxova-Wiedemann syndrome

Richieri Costa-Pereira syndrome

Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome · Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome

RIN2 syndrome

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

Salt-and-pepper syndrome

Spinal muscular atrophy-progressive myoclonic epilepsy syndrome

Hereditary myoclonus-progressive distal muscular atrophy syndrome · Jankovic-Rivera syndrome

Vitamin K antagonist embryofetopathy

Vitamin K antagonist embryopathy · di Sala syndrome

Woolly hair-hypotrichosis-everted lower lip-outstanding ears syndrome

Salamon syndrome