Global developmental delay, and Hirsutism

Diseases related with Global developmental delay and Hirsutism

In the following list you will find some of the most common rare diseases related to Global developmental delay and Hirsutism that can help you solving undiagnosed cases.


Top matches:

Medium match GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17; GPIBD17


Glycosylphosphatidylinositol biosynthesis defect-17 is an autosomal recessive disorder characterized by variable neurologic deficits that become apparent in infancy or early childhood. Patients may present with early-onset febrile or afebrile seizures that tend to be mild or controllable. Other features may include learning disabilities, autism, behavioral abnormalities, hypotonia, and motor deficits. The phenotype is relatively mild compared to that of other GPIBDs (summary by Nguyen et al., 2018).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 17; GPIBD17

Medium match ZIMMERMANN-LABAND SYNDROME 2; ZLS2


Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MENDELIAN

More info about ZIMMERMANN-LABAND SYNDROME 2; ZLS2

Medium match LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA; LIS7


Lissencephaly-7 with cerebellar hypoplasia is a severe neurodevelopmental disorder characterized by lack of psychomotor development, facial dysmorphism, arthrogryposis, and early-onset intractable seizures resulting in death in infancy (summary by Magen et al., 2015).For a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (OMIM ).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Micrognathia
  • Abnormal facial shape


SOURCES: OMIM MENDELIAN

More info about LISSENCEPHALY 7 WITH CEREBELLAR HYPOPLASIA; LIS7

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Other less relevant matches:

Medium match SEVERE INTELLECTUAL DISABILITY-CORPUS CALLOSUM AGENESIS-FACIAL DYSMORPHISM-CEREBELLAR ATAXIA SYNDROME


SEVERE INTELLECTUAL DISABILITY-CORPUS CALLOSUM AGENESIS-FACIAL DYSMORPHISM-CEREBELLAR ATAXIA SYNDROME Is also known as birk-flusser syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Ataxia
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY-CORPUS CALLOSUM AGENESIS-FACIAL DYSMORPHISM-CEREBELLAR ATAXIA SYNDROME

Medium match CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2


Cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and mental retardation (summary by Gulsuner et al., 2011).For a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 (OMIM ).

CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2 Is also known as cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Ataxia


SOURCES: MESH OMIM MENDELIAN

More info about CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2

Medium match X-LINKED INTELLECTUAL DISABILITY, STOCCO DOS SANTOS TYPE


X-linked intellectual disability, Stocco Dos Santos type is characterised by severe intellectual deficit with hyperactivity, language delay, congenital hip luxation, short stature, kyphosis and recurrent respiratory infections. Aggressive behaviour and frequent epileptic seizures may also be present. The syndrome has been described in four boys from the same family. Transmission is X-linked and is caused by mutations in the KIAA1202 gene, localised to the Xp11.2 region.

X-LINKED INTELLECTUAL DISABILITY, STOCCO DOS SANTOS TYPE Is also known as mental retardation, x-linked, stocco dos santos type

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, STOCCO DOS SANTOS TYPE

Medium match JOUBERT SYNDROME 10; JBTS10


Joubert syndrome is characterized by a specific hindbrain formation, hypotonia, cerebellar ataxia, dysregulated breathing patterns, and developmental delay. Ciliary dysfunction is a key factor in the pathogenesis (Coene et al., 2009).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: OMIM MESH MENDELIAN

More info about JOUBERT SYNDROME 10; JBTS10

Medium match AURICULOCONDYLAR SYNDROME 2; ARCND2


Auriculocondylar syndrome (ARCND), also known as 'question-mark ear syndrome' or 'dysgnathia complex,' is an autosomal dominant craniofacial malformation syndrome characterized by highly variable mandibular anomalies, including mild to severe micrognathia, often with temporomandibular joint ankylosis, cleft palate, and a distinctive ear malformation that consists of separation of the lobule from the external ear, giving the appearance of a question mark. Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia (summary by Rieder et al., 2012).For a discussion of genetic heterogeneity of auriculocondylar syndrome, see ARCND1 (OMIM ).

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Micrognathia
  • Cleft palate


SOURCES: OMIM MENDELIAN

More info about AURICULOCONDYLAR SYNDROME 2; ARCND2

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41; EIEE41


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 41; EIEE41

Top 5 symptoms//phenotypes associated to Global developmental delay and Hirsutism

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Microcephaly Common - Between 50% and 80% cases
Absent speech Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Global developmental delay and Hirsutism. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Growth delay Cerebellar hypoplasia Ataxia Strabismus Kyphosis Low-set ears Intellectual disability, severe Hearing impairment Short stature Inability to walk Feeding difficulties Intellectual disability, profound

Rare Symptoms - Less than 30% cases


Cerebellar atrophy Deeply set eye Hypertonia Lissencephaly Full cheeks Agenesis of corpus callosum Hypertelorism Posteriorly rotated ears Sparse hair Dysmetria Epileptic encephalopathy Micrognathia Low-set, posteriorly rotated ears Cerebellar vermis hypoplasia Macrocephaly Gastroesophageal reflux Epicanthus Hypoplasia of the corpus callosum Small hand Short foot Pain Spasticity Wide nasal bridge Short neck Thick eyebrow Generalized myoclonic seizures Coarse facial features Long eyelashes Upslanted palpebral fissure Deep philtrum Sensorineural hearing impairment Abnormal facial shape Thick vermilion border Clinodactyly Delayed myelination Lethargy Polydactyly Feeding difficulties in infancy Recurrent infections Frontal bossing Abnormality of movement Downslanted palpebral fissures EEG abnormality Polymicrogyria Tapered finger Rod-cone dystrophy Mandibular condyle hypoplasia Motor delay Scoliosis Cortical dysplasia Thoracic scoliosis Muscle fibrillation Thoracic kyphosis Abnormality of the neck Atrophy of the dentate nucleus Aplasia of the inferior half of the cerebellar vermis Nephrocalcinosis Postaxial polydactyly Depressed nasal bridge Cerebral visual impairment Talipes equinovarus Hyperactivity Tetraparesis Hip dislocation Bruxism Hypsarrhythmia Infra-orbital crease Encephalocele Central apnea Blindness Visual impairment Ankylosis Glossoptosis Upper airway obstruction Flexion contracture Long penis Dysdiadochokinesis Snoring Cleft at the superior portion of the pinna Overfolding of the superior helices Speech articulation difficulties Mandibular condyle aplasia Question mark ear Temporomandibular joint ankylosis Cerebral atrophy Bulbar palsy Molar tooth sign on MRI Apnea Enlarged cisterna magna Hypoplastic superior helix Cleft palate Respiratory distress Narrow mouth Neonatal hypotonia Irritability Kyphoscoliosis Round face Developmental regression Dental malocclusion Dental crowding Preauricular skin tag Poor suck Cupped ear Global brain atrophy Low anterior hairline Intellectual disability, progressive Lymphedema Broad eyebrow Prominent nasal septum Myopathy Areflexia Respiratory failure Arthrogryposis multiplex congenita Centrally nucleated skeletal muscle fibers Widow's peak Hand clenching Agyria Hyperreflexia Dystonia Short nose Syndactyly Encephalopathy Bifid nasal tip Anonychia Muscular hypotonia of the trunk Incoordination High palate Clinodactyly of the 5th finger Autism Aggressive behavior Febrile seizures Hypertriglyceridemia Finger clinodactyly Dysplastic corpus callosum Gingival overgrowth Synophrys Joint hypermobility Macroglossia Underdeveloped nasal alae Small nail Depressed nasal ridge Hypertrichosis Mandibular prognathia Hypermetropia Truncal ataxia Tremor Congenital microcephaly Nonprogressive cerebellar ataxia Upper eyelid edema Cognitive impairment Delayed speech and language development Dysarthria Hyporeflexia Palpebral edema Micropenis Gait ataxia Abnormal pyramidal sign Short palm Brain atrophy Intention tremor Heterotopia Limb hypertonia Partial agenesis of the corpus callosum Apraxia Anteverted ears Low posterior hairline Narrow palpebral fissure Oculomotor apraxia Poor head control Abnormality of finger Mild microcephaly Thick hair Anteverted nares Aplasia/Hypoplasia of the corpus callosum Protruding ear Poor speech Everted lower lip vermilion Highly arched eyebrow Abnormal cerebellum morphology Narrow forehead Thick lower lip vermilion Focal motor seizures



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Nephropathy, related diseases and genetic alterations Tremor and Anxiety, related diseases and genetic alterations Skeletal muscle atrophy and Small hand, related diseases and genetic alterations High palate and Iris coloboma, related diseases and genetic alterations Low-set ears and Neonatal hypotonia, related diseases and genetic alterations Immunodeficiency and Tetralogy of Fallot, related diseases and genetic alterations

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