MEDLIB
Orphanet Database

Rare diseases

7,547 diseases with genetics, phenotypes, and epidemiology

7,547Diseases
4 552Genes
8 700Phenotypes
1,772 diseases matched (Malform.) Reset

Intellectual disability, Wolff type

ORPHA:3080Malform.

Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome

ORPHA:529965Malform.
Autosomal dominant

Intellectual disability-balding-patella luxation-acromicria syndrome

ORPHA:3041Malform.
X-linked recessive

Intellectual disability-brachydactyly-Pierre Robin syndrome

ORPHA:364577Malform.

Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome

ORPHA:508498Malform.
Autosomal dominant

Intellectual disability-cataracts-calcified pinnae-myopathy syndrome

ORPHA:3042Malform.
Autosomal dominant

Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome

ORPHA:397709Malform.
Autosomal recessive

Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome

ORPHA:3044Malform.
Unknown

Intellectual disability-early-onset cataract-microcephaly syndrome

ORPHA:633035Malform.

Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome

ORPHA:684232Malform.
Autosomal dominant

Intellectual disability-expressive aphasia-facial dysmorphism syndrome

ORPHA:436151Malform.

Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome

ORPHA:404473Malform.
Unknown

Intellectual disability-facial dysmorphism-hand anomalies syndrome

ORPHA:370010Malform.
Autosomal recessive

Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome

ORPHA:684216Malform.
Autosomal dominant, Autosomal recessive

Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome

ORPHA:1495Malform.
Autosomal recessive

Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome

ORPHA:314575Malform.
Autosomal recessive

Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome

ORPHA:684226Malform.
Autosomal dominant

Intellectual disability-lymphoid hypertrophy-macrocephaly syndrome

ORPHA:694956Malform.
Autosomal dominant

Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome

ORPHA:457279Malform.
Autosomal dominant

Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome

ORPHA:457365Malform.
Unknown

Intellectual disability-nasal speech-craniofacial dysmorphism syndrome

ORPHA:697760Malform.
Autosomal dominant

Intellectual disability-peripheral neuropathy-corpus callosum abnormalities syndrome due to nudix hydrolase 2 deficiency

ORPHA:694937Malform.
Autosomal recessive

Intellectual disability-polydactyly-uncombable hair syndrome

ORPHA:3082Malform.

Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome

ORPHA:369837Malform.
Autosomal recessive