Rare Disease Library

Potassium-aggravated myotonia

K+-aggravated myotonia · K-aggravated myotonia

Potocki-Shaffer syndrome

11p11.2 deletion · Proximal 11p deletion syndrome

Primary orthostatic tremor

POT

17p11.2 microduplication syndrome

Potocki-Lupski syndrome · Trisomy 17p11.2

Hereditary neuropathy with liability to pressure palsies

Current pressure-sensitive neuropathy · HNPP

Normokalemic periodic paralysis

NormoKPP · NormoPP

Postural orthostatic tachycardia syndrome due to NET deficiency

Orthostatic intolerance due to NET deficiency · POTS due to NET deficiency

Thomas syndrome

Potter sequence-cleft lip/palate-cardiopathy syndrome

Acquired hypothalamic obesity

Angioosteohypotrophic syndrome

Phlebectatic osteohypoplastic angiodysplasia · Servelle-Martorell syndrome

Anophthalmia-hypothalamo-pituitary insufficiency syndrome

14q22 microdeletion syndrome · Al Frayh-Facharzt-Haque syndrome

Atypical hypotonia-cystinuria syndrome

Atypical HCS

Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation

H1-4-related neurodevelopmental disorder · Rahman syndrome

Autosomal recessive carpotarsal osteolysis

Hereditary multicentric osteolysis

Cardiomyopathy-hypotonia-lactic acidosis syndrome

Carpotarsal osteochondromatosis

Maroteaux-Le Merrer-Bensahel syndrome

Central congenital hypothyroidism

Secondary hypothyroidism

Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome

KMT2D-related choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome

Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome

Congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome

Congenital hypothalamic hamartoma syndrome

CHHS

Congenital hypothyroidism

Congenital hypothyroidism due to developmental anomaly

Primary congenital hypothyroidism due to developmental anomaly

Congenital hypothyroidism due to maternal intake of antithyroid drugs

Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies

Congenital limbs-face contractures-hypotonia-developmental delay syndrome

CLIFAHDD syndrome

Congenital thyroid malformation without hypothyroidism

Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome

HADDS · Hypotonia-ataxia-delayed developmental syndrome

Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome

RAC3-related syndrome

Gelastic seizures with hypothalamic hamartoma

GS-HH · Hypothalamic hamartoma with gelastic seizures

Genetic primary orthostatic hypotension

Genetic transient congenital hypothyroidism

Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome

Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome

Hereditary hypotrichosis with recurrent skin vesicles

Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome

Autosomal recesive ectodermal dysplasia 14 · ARED14

Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome

HEDH syndrome · ANOTHER syndrome

Hypothalamic adipsic hypernatraemia syndrome

Hypothalamic insufficiency-secondary microcephaly-visual impairment-urinary anomalies syndrome

Hypothyroidism due to deficient transcription factors involved in pituitary development or function

Hypothyroidism due to TSH receptor mutations

Hypotonia with lactic acidemia and hyperammonemia

COXPD5 · Combined oxidative phosphorylation defect type 5

Hypotonia-cystinuria syndrome

HCS

Hypotonia-cystinuria type 1 syndrome

Hypotonia-failure to thrive-microcephaly syndrome

LTC4 synthase deficiency · Leukotriene C4 synthase deficiency

Hypotonia-speech impairment-severe cognitive delay syndrome

Infantile hypotonia-psychomotor retardation-characteristic facies syndrome · IHPRF syndrome

Hypotonia-speech impairment-severe cognitive delay syndrome due to NALCN deficiency

Hypotonia-speech impairment-severe cognitive delay syndrome due to UNC80 deficiency

Hypotrichosis simplex

Hereditary hypotrichosis simplex