Catalog
Syndromic conditions with disorders of intellectual development as a relevant clinical feature
No MMS code
Link to WHO Definition
Syndromic conditions with disorders of intellectual development as a relevant clinical feature – http://id.who.int/icd/entity/426937915
Parents
Children
- Marfanoid craniosynostosis syndrome
- Robinow syndrome
- Xq28 duplication
- Catel-Manzke syndrome
- 2q23.1 deletion
- LD2F.15 Noonan syndrome
- Deafness – onychodystrophy
- Ear-patella-short stature syndrome
- Refsum disease
- ATR-X-related syndromes
- 5C56.31 Mucopolysaccharidosis type 2
- KA62.8 Congenital rubella syndrome
- Uveal coloboma - cleft lip and palate - intellectual deficit
- SCARF syndrome
- Hyperlysinaemia
- Keutel syndrome
- Hypoglossia - hypodactyly
- 17q21.31 duplication
- LD90.2 Pelizaeus-Merzbacher-like disease
- 17q11.2 duplication
- Kabuki syndrome
- X-linked cerebral adrenoleukodystrophy
- LD90.0 Angelman syndrome
- Metaphyseal dysostosis - intellectual deficit - conductive deafness
- Kaler-Garrity-Stern syndrome
- Spondylocostal dysostosis - anal and genitourinary malformations
- 5C53.02 Pyruvate dehydrogenase complex deficiency
- Methylmalonic aciduria, vitamin B12 responsive
- Oral-facial-digital syndrome type 3
- 2q37 deletion
- Oculo-digito-oesophageal-duodenal syndrome
- Tetrasomy 18p
- Cohen syndrome
- Microcephaly-microcornea syndrome, Seemanova type
- Cockayne syndrome
- X-linked creatine transporter deficiency
- Hypertryptophanaemia
- Organoid naevus syndrome
- Opitz BBB/G syndrome
- 17q21.31 deletion
- Smith-Lemli-Opitz syndrome
- Seizures - intellectual deficit due to hydroxylysinuria
- Cerebellar atrophy - ataxia - seizures
- Infantile onset spinocerebellar ataxia
- Acrocallosal syndrome
- 5C56.33 Mucopolysaccharidosis type 6
- Hypoxanthine-guanine phosphoribosyltransferase deficiency
- 8A44.0 Pelizaeus-Merzbacher disease
- Fryns syndrome
- Wolf-Hirschhorn syndrome
- McDonough syndrome
- X-linked mandibulofacial dysostosis
- Joubert syndrome with ocular defect
- Klinefelter syndrome with karyotype 48,XXYY
- Trichothiodystrophy
- Waardenburg-Shah syndrome, neurologic variant
- LA05.60 Porencephaly
- Leukoencephalopathy with bilateral anterior temporal lobe cysts
- 15q24 deletion
- 5C60.0 Oculocerebrorenal syndrome
- Joubert syndrome with hepatic defect
- Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
- Wiedemann-Rautenstrauch progeroid syndrome
- LD20.00 Joubert syndrome
- Renpenning syndrome
- Cystathioninuria
- Joubert syndrome with renal defect
- X-linked intellectual deficit, Najm type
- Johanson-Blizzard syndrome
- Oral-facial-digital syndrome type 4
- Malpuech syndrome
- Nodular neuronal heterotopia
- Oculo-dento-digital dysplasia
- Cranio-facio-cardio-skeletal syndrome
- 6p24pter deletion
- L1 syndrome
- Fucosidosis
- Toriello-Carey syndrome
- Cerebrocostomandibular syndrome
- Mucopolysaccharidosis type 3
- Johnson neuroectodermal syndrome
- Classical homocystinuria
- C syndrome
- Phosphoribosyl pyrophosphate synthase superactivity
- Tetrasomy 12p mosaicism
- Intellectual development disorder and microcephaly with pontine and cerebellar hypoplasia
- Otopalatodigital syndrome
- Ulnar-mammary syndrome
- Lenz-Majewski hyperostotic dwarfism
- KA62.3 Congenital cytomegalovirus infection
- Hyperdibasic aminoaciduria type 1
- Microgastria - limb reduction defect
- Geroderma osteodysplasticum
- LD55 Fragile X chromosome
- Dyskeratosis congenita
- Alopecia - contractures - dwarfism - intellectual deficit
- Intellectual disability – enteropathy – deafness – neuropathy – ichthyosis – keratoderma syndrome
- Schinzel-Giedion syndrome
- LD27.00 Incontinentia pigmenti
- Cerebrotendinous xanthomatosis
- Oral-facial-digital syndrome type 5
- Mucopolysaccharidosis type 7
- 5C56.1 Neuronal ceroid lipofuscinosis
- Shprintzen-Goldberg omphalocele syndrome
- Hyperprolinaemia type 2
- 10p14pter deletion
- Beta-mannosidosis
- Potocki-Shaffer syndrome
- X-linked intellectual deficit with isolated growth hormone deficiency
- Ichthyosis - alopecia - eclabion - ectropion - intellectual deficit
- 3q29 deletion
- Propionic aciduria
- Hennekam lymphangiectasia-lymphoedema syndrome
- LD40.0 Complete trisomy 21
- Berardinelli-Seip congenital lipodystrophy
- Williams-Beuren syndrome
- VACTERL with hydrocephalus
- Alpha-N-acetylgalactosaminidase deficiency
- Hypomelanosis of Ito
- Crisponi syndrome
- 5C50.F2 Homocarnosinosis
- 22q13 deletion
- Hidrotic ectodermal dysplasia, Halal type
- 14q12 deletion
- Microcephaly - cervical spine fusion anomalies
- Branchio-skeleto-genital syndrome
- Oral-facial-digital syndrome type 9
- Cutis verticis gyrata - retinitis pigmentosa - sensorineural deafness
- Bowen-Conradi syndrome
- Autosomal recessive cutis laxa, type 3
- 5C56.02 Metachromatic leukodystrophy
- Adenylosuccinate lyase deficiency
- Monoamine oxidase-A deficiency
- Fetal trimethadione syndrome
- Goldberg-Shprintzen megacolon syndrome
- 8q12 duplication
- Frontometaphyseal dysplasia
- 3q29 duplication
- 8p11.2 deletion
- Carey-Fineman-Ziter syndrome
- Ophthalmoacromelic syndrome
- 19q13.11 deletion
- Cornelia de Lange syndrome
- Guanidinoacetate methyltransferase deficiency
- Simpson-Golabi-Behmel syndrome
- Cat-eye syndrome
- Lathosterolosis
- Free sialic acid storage disease
- Oral-facial-digital syndrome type 10
- Supernumerary der(22)t(11;22) syndrome
- Ornithine carbamoyltransferase deficiency
- 15q13.3 deletion
- PHACE syndrome
- SYNGAP1 syndrome
- 8C21.2 Hereditary sensory and autonomic neuropathy type IV
- Solitary median maxillary central incisor syndrome
- Ring chromosome 20 with normal number of chromosomes
- Micro syndrome
- Pallister-Hall syndrome
- X-linked spastic paraplegia type 2
- Giant axonal neuropathy
- 1q21.1 deletion
- Sialidosis type 2
- Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- WAGR syndrome
- LD44.N0 CATCH 22 phenotype
- Osteoporosis - pseudoglioma
- Sotos syndrome
- 5C50.12 Tyrosinaemia type 2
- Leukoencephalopathy with brainstem - spinal cord involvement - lactate elevation
- Moebius syndrome
- LD2D.2 Tuberous sclerosis
- Osteopoikilosis - short stature - intellectual deficit
- Oral-facial-digital syndrome type 1
- 15q11 duplication or inversion
- Distal 17q deletion
- Mucopolysaccharidosis type 1H
- Alpha-mannosidosis
- Congenital muscular dystrophy with central nervous system abnormalities
- Costello syndrome
- 4q21 deletion
- Infantile bilateral striatal necrosis
- Dicarboxylic aminoaciduria
- Oral-facial-digital syndrome type 8
- Hallermann-Streiff-François syndrome
- Oral-facial-digital syndrome type 2
- Marden-Walker syndrome
- Mowat-Wilson syndrome
- Oral-facial-digital syndrome type 6
- Kleefstra syndrome
- Atelosteogenesis type III
- LD90.4 Rett syndrome
- Wilson-Turner syndrome
- 2q32q33 deletion
- Antley-Bixler syndrome
- 15q11q13 duplication
- Pitt-Hopkins syndrome
- Weaver syndrome
- Demyelinating hereditary motor and sensory neuropathy, X-linked
- Aicardi syndrome
- Autosomal dominant popliteal pterygium syndrome
- Oliver syndrome
- Female with more than three X chromosomes
- LA05.50 Polymicrogyria
- Infantile systemic hyalinosis
- Melnick-Needles osteodysplasty
- Börjeson-Forssman-Lehmann syndrome
- Floating-Harbor syndrome
- Aarskog-Scott syndrome
- Roberts syndrome
- Carpenter syndrome
- 17p duplication
- Microphthalmia - ankyloblepharon - intellectual deficit
- Tay-Sachs disease
- Buttiens-Fryns syndrome
- Zellweger syndrome
- Ablepharon-macrostomia syndrome
- Microcephaly, microphthalmia, ectrodactyly of lower limbs, prognathism syndrome
- De la Chapelle dysplasia
- Limb-girdle muscular dystrophy 2K, protein-O-mannosyltransferase 1 transferase
- Rhizomelic chondrodysplasia punctata
- Microcephalic osteodysplastic primordial dwarfism types 1 and 3
- Jacobsen syndrome
- 17p13.3 duplication
- 5C58.00 Crigler-Najjar syndrome
- Alternating hemiplegia of childhood
- 5q14.3 deletion
- LD24.80 Langer-Giedion syndrome
- Oculopalatocerebral syndrome
- Pachygyria - epilepsy - intellectual deficit - dysmorphism
- Progressive neurodegeneration - joint laxity - cataract
- FRAXE intellectual deficit
- 5C50.A1 Carbamoylphosphate synthetase deficiency
- Glycogen storage disease due to LAMP-2 deficiency
- Cerebro-oculo-nasal syndrome
- Bannayan-Riley-Ruvalcaba syndrome
- Congenital cataracts - facial dysmorphism - neuropathy
- Leukocyte adhesion deficiency type 2
- Genito-patellar syndrome
- Coffin-Lowry syndrome
- Noonan-like syndrome with loose anagen hair
- LD90.3 Prader-Willi syndrome
- Joubert syndrome with oculorenal defect
- Kearns-Sayre syndrome
- Neurocutaneous melanocytosis
- Axonal hereditary motor and sensory neuropathy, X-linked
- Marshall-Smith syndrome
- 5C52.03 Sjögren-Larsson syndrome
- 3-methylglutaconic aciduria type 5
- 10p duplication
- 5C50.0 Phenylketonuria
- Laurence-Moon syndrome
- KBG syndrome
- 21q deletion
- 5C50.F1 Carnosinaemia
- Aminopterin embryofetopathy
- Cardio-facio-cutaneous syndrome
- MEHMO syndrome
- Iris coloboma with ptosis - intellectual deficit
- CHARGE syndrome
- Spondyloepiphyseal dysplasia, Nishimura type
- Microphthalmia, dermal aplasia, and sclerocornea syndrome
- AICAR transformylase deficiency
- Isolated glycerol kinase deficiency
- Oculo-facio-cardio-dental syndrome
- De Grouchy syndrome
- Nephrogenic diabetes insipidus - intracranial calcification
- Oxoprolinuria
- De Sanctis-Cacchione syndrome
- Atypical Rett syndrome
- Alpha thalassaemia - intellectual deficit syndrome
- Cri-du-chat syndrome
- Cutis verticis gyrata - intellectual deficit
- Cardiocranial syndrome, Pfeiffer type
- Microcephalic osteodysplastic primordial dwarfism type 2
- Haemolytic anaemia due to glucose-phosphate isomerase deficiency
- Formiminoglutamic aciduria
- Male with more than two Y chromosomes
- Norrie disease
- Microphthalmia, Lenz type
- Encephalopathy due to sulfite oxidase deficiency
- Focal dermal hypoplasia
- Rubinstein-Taybi syndrome
- Zellweger-like syndrome without peroxisomal anomalies
- Lowry-MacLean syndrome
- Marfanoid habitus - intellectual deficit, autosomal recessive
- Acrofrontofacionasal dysostosis
- Sandhoff disease
- Lethal restrictive dermopathy
- Cataract – hypertrichosis – intellectual deficit
- Coffin-Siris syndrome
- Silver-Russell syndrome
- Tyrosinaemia type 3
- Infantile Refsum disease
- Acrofacial dysostosis, Catania type
- Craniofrontonasal dysplasia
- Dubowitz syndrome
- Spondyloepiphyseal dysplasia tarda, Kohn type
- Microphthalmia - brain atrophy
- Anophthalmia or microphthalmia - oesophageal atresia
- Neuroectodermal melanolysosomal disease
- Acrofacial dysostosis, Rodriguez type
- Frontonasal dysplasia
- Cardioencephalopathy with hyperammonaemia
- Cerebrofaciothoracic dysplasia
- LD20.1 Syndromes with lissencephaly as a major feature
- CB04.5 Brain-lung-thyroid syndrome
- Skeletal dysplasia - epilepsy - short stature
- Zimmermann-Laband syndrome
- Xp11.22p11.23 duplication
- LD50.31 Klinefelter syndrome, male with more than two X chromosomes
- Hartnup syndrome
- Lipodystrophy - intellectual deficit - deafness
- Pseudoaminopterin syndrome
- Neu-Laxova syndrome
- 2-hydroxyglutaric aciduria
- GAPO syndrome
- Campomelic dysplasia
- Zunich-Kaye syndrome
- X-linked cutis laxa
- Peters-plus syndrome
- LD90.1 Early-onset parkinsonism - intellectual deficit
- Nance-Horan syndrome
- Intellectual deficit - balding - patella luxation - acromicria
- Autosomal recessive cutis laxa, type 2A
- Dystonia due to dentatorubropallidoluysian atrophy
- PEHO syndrome
- Acrocardiofacial syndrome
- Menkes disease
- Hereditary hyperekplexia
- Smith-Magenis syndrome