Severe infantile axonal neuropathy with respiratory failure type 1 is a very rare inherited nerve disease that begins in early infancy. It mainly damages the ...

Distal hereditary motor neuronopathy, Harding type VI (often shortened to dHMN VI or HMN VI), is a rare, inherited nerve disease. It mainly damages the motor ...

Distal Hereditary Motor Neuropathy Type 6 (dHMN-VI)) is a group of rare, inherited conditions where the long nerves that move muscles slowly deteriorate. ...

Diaphragmatic spinal muscular atrophy is a very rare neuromuscular disease in which the nerves that control muscles gradually stop working. The word ...

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare, inherited nerve-and-muscle disease. It damages the lower motor neurons (the ...

Autosomal recessive distal spinal muscular atrophy 1 is a rare inherited nerve and muscle disease. It damages the lower motor neurons in the spinal cord that ...

Autosomal recessive distal renal tubular acidosis is a rare, inherited kidney condition. It affects the last part of the kidney tubule called the distal ...

Petit–Fryns syndrome is a very rare, inherited condition that causes progressive loss (breakdown) of the small bones in the hands and feet (this is called ...

Distal osteolysis–short stature–intellectual disability syndrome is a very rare, inherited bone disorder that begins in early childhood. The tip bones of the ...

Autosomal Recessive Distal Osteolysis Syndrome (ARDOS) is a very rare genetic condition where the small bones at the tips of the hands and feet gradually ...

Autosomal recessive cutis laxa type 2, progeroid type is a rare genetic condition that makes the skin loose and wrinkled and also affects many body systems. In ...

Autosomal recessive cutis laxa type 2 (ARCL2) due to PYCR1 is a rare inherited connective tissue condition. The skin is loose, wrinkled, and hangs with poor ...

Autosomal recessive cutis laxa type 2B (ARCL2B)  is a rare, inherited connective-tissue condition where a child is born with loose, wrinkled skin (cutis laxa) ...

Cutis laxa with osteodystrophy is a rare group of inherited connective-tissue conditions. The skin looks loose, soft, and wrinkled because the elastic fibers ...

Cutis laxa with joint laxity and developmental delay is a rare group of connective-tissue disorders where the skin loses its normal elastic recoil. The skin ...

Cutis laxa with growth and developmental delay is a rare condition where the skin and some internal tissues become unusually loose and stretchy because the ...

Cutis laxa with congenital disorder of glycosylation (CDG) is a rare inherited condition where a baby is born with loose, saggy skin (cutis laxa) and ...

Geroderma osteodysplasticum (GO) is a rare, inherited condition that makes the skin loose and wrinkled and the bones fragile. Children are usually born looking ...

Cutis laxa with bone dystrophy is a rare connective-tissue disorder in which the skin is loose, saggy, and less elastic because elastic fibers and related ...

Autosomal recessive cutis laxa type 2A (ARCL2A) is a rare inherited condition where the skin is loose, hangs in folds, and does not spring back normally. It ...