Rare Disease Library

Hinman syndrome

HAS · HS

Short stature-craniofacial anomalies-genital hypoplasia syndrome

Haspeslagh-Fryns-Muelenaere syndrome

Steroid-responsive encephalopathy associated with autoimmune thyroiditis

Hashimoto encephalitis · SREAT

3-hydroxy-3-methylglutaryl-CoA synthase deficiency

HMG-CoA synthase deficiency

6-pyruvoyl-tetrahydropterin synthase deficiency

Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency

Acute encephalopathy with biphasic seizures and late reduced diffusion

AESD · AIEF

Familial advanced sleep-phase syndrome

FASPS

Familial developmental dysphasia

Billard-Toutain-Maheut syndrome · FOXP2-associated dysphasia

Glycogen storage disease due to glycogen synthase deficiency

GSD due to glycogen synthase deficiency · Glycogenosis due to glycogen synthase deficiency

Glycogen storage disease due to hepatic glycogen synthase deficiency

GSD due to hepatic glycogen synthase deficiency · GSD type 0a

Glycogen storage disease due to muscle and heart glycogen synthase deficiency

Glycogenosis due to muscle and heart glycogen synthase deficiency · Glycogenosis type 0b

GM3 synthase deficiency

ST3GAL5-CDG

Homocystinuria due to cystathionine beta-synthase deficiency

Cystathionine beta-synthase-deficient homocystinuria · Cystathionine beta-synthase deficiency

Hyperammonemia due to N-acetylglutamate synthase deficiency

NAGS deficiency

Intellectual disability-expressive aphasia-facial dysmorphism syndrome

SETBP1 haploinsufficiency disorder · Intellectual disability-loss of expressive language-facial dysmorphism syndrome

Isolated ATP synthase deficiency

Isolated mitochondrial respiratory chain complex V deficiency

Logopenic progressive aphasia

LPA · Logopenic primary progressive aphasia

OBSOLETE: Hashimoto-Pritzker syndrome

OBSOLETE: Congenital Langerhans cell histiocytosis

Primary progressive aphasia

Mesulam syndrome · PPA

Progressive non-fluent aphasia

Agramatic variant of PPA · Agramatic variant of primary progressive aphasia

Progressive supranuclear palsy-progressive non-fluent aphasia syndrome

PSP-AOS · PSP-PNFA

Shashi-Pena syndrome

Tel Hashomer camptodactyly syndrome

Camptodactyly-muscular hypoplasia-skeletal anomalies-abnormal palmar creases syndrome

X-linked dominant chondrodysplasia, Chassaing-Lacombe type

X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome

X-linked intellectual disability, Shashi type

Syndromic X-linked intellectual disability type 11