Rare Disease Library

IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome

IRIDA syndrome

Iron-refractory iron deficiency anemia

Iridocorneal endothelial syndrome

ICE syndrome

IRVAN syndrome

Idiopathic retinal vasculitis-aneurysms-neuroretinitis syndrome

Isaacs syndrome

Continuous muscle fiber activity syndrome · Quantal squander syndrome

Ischio-vertebral syndrome

Ischiospinal dysostosis · Ischiovertebral dysplasia

Isobutyryl-CoA dehydrogenase deficiency

Isobutyric aciduria

Isochromosome Y syndrome

Isochromosomy Yp syndrome

Isochromosomy Yq syndrome

Isolated absence of both forearm and hand

Isolated congenital radio-ulnar terminal transverse meromelia

Isolated absence of both lower leg and foot

Isolated congenital tibiofibular terminal transverse meromelia

Isolated absence of thigh and lower leg with foot present

Isolated congenital femoro-tibio-fibular intercalary transverse meromelia

Isolated absence of upper arm and forearm with hand present

Isolated congenital humero-radio-ulnar intercalary transverse meromelia

Isolated absence/hypoplasia of fingers excluding thumb, unilateral

Isolated congenital adactyly of hand, unilateral · Isolated digits 2-5 hypodactyly, unilateral

Isolated acheiria

Isolated congenital absence of hand

Isolated acheiropodia

Isolated acheiropody

Isolated adrenal medullary hyperplasia

Isolated AMH

Isolated agenesis of gallbladder

Isolated amelia of lower limb

Isolated congenital absence of lower limb

Isolated amelia of upper limb

Isolated congenital absence of upper limb

Isolated amyelia

Isolated anal canal duplication

ACD

Isolated anencephaly

Isolated anencephaly/exencephaly

Isolated angioid streaks

Isolated aniridia

Isolated ankyloblepharon filiforme adnatum

Isolated anogenital granulomatosis

AGG

Isolated anterior cervical hypertrichosis

Hairy throat syndrome · Tsukahara-Kajii syndrome

Isolated apodia

Isolated congenital absence of foot

Isolated arhinencephaly

Isolated arrhinia

Isolated nose agenesis

Isolated asymptomatic elevation of creatine phosphokinase

Isolated asymptomatic hyperCKemia · Idiopathic asymptomatic hyperCKemia

Isolated ATP synthase deficiency

Isolated mitochondrial respiratory chain complex V deficiency

Isolated atrial standstill

Isolated atrial cardiomyopathy with heart block

Isolated autosomal dominant hypomagnesemia, Glaudemans type

Isolated bilateral hemispheric cerebellar hypoplasia

Isolated biliary atresia

Non-syndromic biliary atresia · Isolated atresia of bile ducts

Isolated blepharochalasis

Isolated bone marrow mastocytosis

Isolated cerebellar agenesis

Near total absence of cerebellum · Subtotal absence of cerebellum

Isolated cerebellar vermis agenesis

Isolated cerebellar vermis hypoplasia

Isolated childhood apraxia of speech

Isolated developmental verbal dyspraxia · Pure childhood apraxia of speech

Isolated cleft lip

Isolated colonic duplication

Isolated duplication of the colon

Isolated complex I deficiency

Isolated NADH-coenzyme Q reductase deficiency · Isolated NADH-ubiquinone reductase deficiency