Rare Disease Library

Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome

PLAAT3-related lipodystrophy syndrome

4H leukodystrophy

POLR-related leukodystrophy

AKT2-related familial partial lipodystrophy

AKT2-related FPLD

Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome

Neurodevelopmental disorder-hypotonia-stereotypic hand movements-impaired language · MEF2C-related syndrome

Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome

PHD syndrome · Polyvalvular heart disease syndrome

CIDEC-related familial partial lipodystrophy

FPLD5 · CIDEC-related FPLD

Congenital muscular dystrophy-cataract-intellectual disability syndrome

INPP5K-related syndrome

CPE-related Prader-Willi-like syndrome

BDV syndrome · Blakemore-Durmaz-Vasileiou syndrome

EEC syndrome and related disorders

EEC syndrome and related syndrome · Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome and related disorders

Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome

RAC3-related syndrome

Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome

ARCN1-related syndrome

KLHL7-related Bohring-Opitz-like syndrome

KLHL7-related BOS-like syndrome

Leigh syndrome with leukodystrophy

Infantile subacute necrotizing encephalopathy with leukodystrophy · Leigh disease with leukodystrophy

LIPE-related familial partial lipodystrophy

FPLD6 · LIPE-related FPLD

Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome

ARPC4-related syndrome

MYH9-related syndromic thrombocytopenia

MYH9-RD · MYH9-related disorder

NPHP3-related Meckel-like syndrome

Goldston syndrome · Meckel syndrome type 7

Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome

AMOTL1-related syndrome

PLIN1-related familial partial lipodystrophy

FPLD4 · PLIN1-related FPLD

PPARG-related familial partial lipodystrophy

FPLD3 · Familial partial lipodystrophy type 3

Progeroid and marfanoid aspect-lipodystrophy syndrome

Proteasome-associated autoinflammatory syndrome

ALDD syndrome · Autoinflammation-lipodystrophy-dermatosis syndrome

Rauch-Steindl syndrome

NSD2-related syndrome

Schuurs-Hoeijmakers syndrome

PACS1-NDD · PACS1-neurodevelopmental disorder

SHORT syndrome

Lipodystrophy-Rieger anomaly-diabetes syndrome · Rieger anomaly-partial lipodystrophy syndrome

SIM1-related Prader-Willi-like syndrome

SIM1-related PWLS